Guidelines Literature on Rare diseases
Achondroplasia
- Bodensteiner_Achondroplasia_neuro_CurrNeurolNeurosciRep2019.pdf
- Booth_Achondroplasia_sleep_IntJPediatrOtolaryngol2020.pdf
- Buratti_Achondroplasia_diet_AJMG2020.pdf
- Carter_Achondroplasia_General_CurrOpinPediatr200728443.pdf
- Chang_Achondroplasia_molec_AJMG2018.pdf
- Coi_Achondroplasia_epidemiology_AJMG2019.pdf
- DelPino_Achondroplasia_growth_JPediatrEndocrinolMetab2020.pdf
- Achondroplasia_Chemotherapy_JClinPharmTherap201628444.pdf
- Foreman_Achondroplasia_epidemiology_AJMG2020.pdf
- Fredwall_Achondroplasia_general_ClinGenet2019.pdf
- Hoover_Achondroplasia_guidelineupdate_Pediatr2020.pdf
- Ireland_Achondroplasia_General_JPaediatrChildHealth201228445.pdf
- Kubota_Achondroplasia_guidelinesJapan_ClinPediatrEndocrin2020.pdf
- Legare_Achondroplasia_general_GeneReviews2020.pdf
- Legeai_Achondroplasia_bone_Bone2020.pdf
- Matsushita_Achondroplasia_burden_CalcifTissInt2019.pdf
- Okenfuss_Achondroplasia_QoL_AJMG2020.pdf
- Pauli_Achondroplasia_general_OrphanetJRareDis2019.pdf
- Pfeiffer_Achondroplasia_burden_QualLifeRes2020.pdf
- Pfeiffer_Achondroplasia_QoL_AJMG2020.pdf
- Pineau_Achondroplasia_dentalguideline_JCraniofacSurg2018.pdf
- Pineau_Achondroplasia_FacialTeeth_JCraniofacSurg201828446.pdf
- SaintLaurent_Achondroplasia_growth_OrphanetJRareDis2019.pdf
- Saito_Achondroplasia_Xrays_PediatrRadiol201628447.pdf
- Sanders_Achondroplasia_bone_GiM2019.pdf
Alagille
- Ayoub_Alagille_generalDiagnost2020.pdf
- BenAmeur_Alagille_Pruritus_ArchPediatr2016.pdf
- Berniczei_Alagille_GeneralTeeth_JCR2014.pdf
- Bonnet_Alagille_oral_BMJCaseRep2020.pdf
- Fujishiro_Alagille_Kasai_PedSurgInternat2018.pdf
- Hall_Alagille_bone_JBoneJointSurg2019.pdf
- Kamath_Alagille_Burden_JPeditrGastroenterolNutr2018.pdf
- Kamath_Alagille_Kidney_AJMG2012.pdf
- Kamath_Alagille_Livertransplantion_JPediatrGastroenterolNutr2010.pdf
- Kamath_Alagille_Vascular_Circulation2004.pdf
- Kim_Alagille_Eye_SeminOphthalmol2007.pdf
- Lopez_Alagille_Liverfistula_JGastroentHepat2019.pdf
- Mitchell_Alagille_General_ClinLiverDis2018.pdf
- Rajagopalan_Alagille_molec_GiM2020.pdf
Albright
- Boyce_Albright_general_GeneRev2019.pdf
- Boyce_Albright_gynaecol_OrphanetJJRareDis2019.pdf
- Elli_Albright_molec_FrontGenet2019.pdf
- Hall_Alagille_bone_JBoneJointSurg2019-1.pdf
- Hoe_Albright_General_PediatrNeonatol2018.pdf
- Javaid_Albright_guideline_OrphanetJRareDis2019.pdf
- Lee_Albright_Craniofac_OrphanetJRareDis2012.pdf
- Majoor_Albright_Breastcancer_JBoneMinRes2018.pdf
- Majoor_Albright_Femur_OrphanetJRareDis2018.pdf
- Majoor_Albright_QoL_CalcifTissInt2018-1.pdf
- Pedersen_Albright_Testisca_IntJUrolNephrol2016-1.pdf
- Robinson_Albright_gastrointest_JCEM2018-1.pdf
- Rotman_Albright_General_BrJClinPharmacol2019-1.pdf
- Spencer_Albright_general_HormResPaediatr2019-1.pdf
- Wang_Albright_gynaecol_EndocrinConnect2018-1.pdf
Alstrom
Angelman
- Beygo_Angelman_molec_EJHG2019.pdf
- Bindels_Angelman_child_AJMG2020.pdf
- Burden_Angelman_burden_AJMG2020.pdf
- Butler_Angelman_molec_FrontPediatr2020.pdf
- Carson_Angelman_molec_MolGenetMed2019.pdf
- Chadwick_Angelman_behaviour_FrontPsychol2018.pdf
- https://ern-ithaca.eu/wp-content/uploads/2020/12/Dagli_Angelman_general_GeneRev2017.pdf
- DenBesten_Angelman_general_AJMG2020.pdf
- Egan_Angelman_sleep_ResDevDisabil2020.pdf
- Glassman_Angelman_gastrointest_AJMG2017.pdf
- Huisman_Angelman_behaviour_NeurosciBiobehavRev2018.pdf
- Keute_Angelman_cognition_MolPsychiatr2020.pdf
- Khan_Angelman_burden_MolGenetGenomMed2019.pdf
- Khan_Angelman_burden_OrphanetJRareDis2019.pdf
- Pearson_Angelman_cognition_DevMedChildNeurol2019.pdf
- Ramsden_Angelman_molecular_BMCMedGenet2010.pdf
- Ryan_Angelman_sleep_JChildNeurol2020.pdf
- Samanta_Angelman_neuro_BrainDev2020.pdf
- Spruyt_Angelman_sleep_SleepMedRev2018.pdf
- Watkins_Angelman_behaviour_JNeurodevDis2019.pdf
- Wheeler_Angelman_behaviour_JIDR2019.pdf
- Wheeler_Angelman_burden_OrphanetJRareDis2017.pdf
- Williams_Angelman_criteria_AJMG2006.pdf
- Witte_Angelman_anaesthesia_Anaest2011.pdf
Apert
- Rajenderkumar_Apert_Hearing_ArchDisChild2005.pdf
- Raposo_Apert_bone_JCraniofacSurg2020.pdf
- Raposo_Apert_Hand_PlastReconstrSurg2018.pdf
- Raposo_Apert_hand_PlastReconstrSurgGlobOpen2019.pdf
- PlastReconstrSurg2014.pdf
- Saydam_Apert_burden_CleftPalCraniofacJ2020.pdf
- Taghina_Apert_Upperextremity_PlastReconstrSurg2019.pdf
- Wenger_Apert_general_GeneRev2019.pdf
- Allam_Apert_Followup_PlastReconstrSurg2011.pdf
- Azoulay_Apert_general_JCraniofacSurgClinNAm2020.pdf
- Barnett_Apert_Anesthesia_PediatrAnesth2011.pdf
- Breik_Apert_Spine_ChildNervSyst2016.pdf
Arthrogryposis
- Benard_Arthrogryposis_oral_JStomatolOralMaxillofacSurg2020.pdf
- Cirillo_Arthrogryposis_pain_AJMGc2019.pdf
- Committe_Arthrogryposis_hip_Pediatr2000.pdf
- Desai_Arthrogryposis_general_FrontPhysiol2020.pdf
- Dieterich_Arthrogryposis_neuro_AJMGc2019.pdf
- DeMulder_Arthrogryposis_Clubfeet_JChildOrthopaed2018.pdf
- Elfassy_Arthrogryposis_burden_PhysOccupatTherPediatr2020.pdf
- Hall_Arthrogryposis_criteria_AJMGc2019.pdf
- Hamdy_Arthrogryposis_leg_AJMG2019.pdf
- Hansen_Arthrogryposis_burden_JPedRehabMed2020.pdf
- Kiefer_Arthrogryposis_molec_AJMGc2019.pdf
- Pehlivan_Arthrogryposis_molec_AJHG2019.pdf
- Pergande_Arthrogryposis_general_GiM2020.pdf
- Jaber_Arthrogryposis_molec_JMedGenet2020.pdf
- VanBosse_Arthrogryposis_bone_CurrOpinPediatr2020.pdf
- Wagner_Arthrogryposis_rehab_AJMGc2019.pdf
- Wall_Arthrogryposis_burden_JPediatrOrthop2020.pdf
- Stoll_Arthrogryposis_additionalanom_AJMG2020.pdf
ATR-X
Bardet-Biedl
- Desvallee_BBSmolec_ClinGenet2020.pdf
- Forsyth_BBS_general_GeneRev2020.pdf
- Forsythe_BBS_FrontPediatr2018.pdf
- Haws_BBS_skin_IntJDermatol2019.pdf
- Manara_BBSmolec_ItalJPediatr2019.pdf
- Olson_BBSabdomen_JPediatr2018.pdf
- Panny_BBSteeth_JDEntRes2017.pdf
- Priya_BBSeye_IndianJOphthalmol2016.pdf
- Smith_BBSanesthesia_PediatrAnaesth2016.pdf
- Suspitsin_BBS_general_MolSyndromol2016.pdf
- Yeung_BBSsleep_IntJPediatrOtotlaryng2017.pdf
Beckwith-Wiedemann
- Baker_BWS_molec_JMedGenet2020.pdf
- Brioude_BWS_onco_EJHG2018.pdf
- Brioude_BWSconsensus_NatRevEndocrin2018.pdf
- Cielo_BWS_sleep_JClinSleepMed2019.pdf
- Cohen_BWS_generaltwin_AJMG2019.pdf
- Coktu_BWS_cancer_BrJCanc2020.pdf
- Duffy_BWS_AFPPediatr2019.pdf
- Duffy_BWS_burden_JGenetCouns2018.pdf
- Duffy_BWS_general_AJMGc2019.pdf
- Eggermann_BWS_molec_JMolMed2020.pdf
- Gazzin_BWS_adults_AJMG2019.pdf
- Han_BWS_onco_JPediatrSurg2018.pdf
- Maas_BWS_onco_AJMG2016.pdf
- Meazzini_BWS_mandiblegrowth_JCranioMaxFacialSurg2020.pdf
- Prendeville_BWS_tongue_CleftPalateCraniofacJ2019.pdf
Bloom
Borjeson-Forssman-Lehmann
CartilageHair
CFC
- Bessis_CFC_skin_BrJDermatol2019.pdf
- Cabrera_CFC_cognition_AJMG2016.pdf
- Geoghegan_CFC_molec_AJMG2018.pdf
- Joyce_CFC_lymph_EJHG2016.pdf
- Kratz_CFC_Cancer_BJC201528773-1.pdf
- Kratz_CFC_onco_BrJCancer2015.pdf
- Pierpont_CFC_behaviour_AJMG2016.pdf
- Pierpont_CFC_guideline_Pediatr2014.pdf
- Rauen_CFC_general_GeneRev2016.pdf
- Shionoya_CFC_anaesth_AnesthProgr2020.pdf
Charge
- Allen_CHAREGnicu_AdvNeonatCare2012.pdf
- Arndt_CHARGEhearing_OtologNeurootolog2010.pdf
- Abadie_CHARGE_behaviour_OrphanetJRareDis2020.pdf
- Blake_CHARGEinternal_AJMGc2017.pdf
- Chetty_CHARGE_dental_HeadFaceMed2020.pdf
- Choo_CHARGEear_AJMGc2017.pdf
- Dijk_CHARGE_growth_JMultidiscHealthcare2020.pdf
- Dosunmu_CHARGE_eye_AJMGc2020.pdf
- Geus_CHARGEimaging_AJMGc2017.pdf
- Hartshorne_CHARGEsleep_DevMedChildNeurol2009.pdf
- Isaac_CHARGEclefting_CleftPalateCraniofacJ2018.pdf
- Meisner_CHARGE_heart_AJMGc2020.pdf
- Moreddu_CHARGEchoanalatresia_IntJPedOtolaryngol2019.pdf
- Qin_CHARGE_molec_FrontGenet2020.pdf
- Trider_CHARGEchecklist_AJMGc2017.pdf
- VanRavenswaaij_CHARGE_general_GeneRev2020.pdf
Cleidocranial
- Barth_CCD_malocclusion_JCraniofacSurg2018.pdf
- Farrow_CCD_general_JCraniofacSurg2018.pdf
- Farrow_CCD_orthodontic_JCraniofacSurg2018.pdf
- Green_CCD_face_JCraniofacSurg2018.pdf
- Hojan_CCD_hearing_EurRevMedPharmacSci2020.pdf
- Jirapinyo_CCD_bone_JCraniofacSurg2020.pdf
- Machol_CCD_general_GeneRev2017.pdf
- Motaei_CCD_molec_FetalPediatrPathol2020.pdf
- Pourtaheri_CCD_oral_JCraniofacSurg2020.pdf
- Roberts_CCD_practical_OralSurgOralMedOralPatholOralRadiol201328725.pdf
- Takaki_CCD_growth_BMCPediatr2020.pdf
Cockayne
- Figueras_Cockayne_eye_DocOphthalmol2019.pdf
- Kubota_Cockayne_prognosis_PedInt2015.pdf
- Laugel_Cockayne_general_GeneRev2019.pdf
- Natale_Cockayne_cancer_OrphanetJRareDis2017.pdf
- Raghavendran_Cockayne_perioperative_PedAnesth200828751.pdf
- Stern_Cockayne_kidney_EJMG2020.pdf
- VanWyhe_Cockayne_cochlea_IntJPediatrOtolrhinolaryngol2018.pdf
- Wilson_Cockayne_general_GenetMed2016.pdf
Coffin-Lowry
Coffin-Siris
COHEN
CorneliaDeLange
- Bergeron_CdLS_sleep_Laryngoscope2019.pdf
- Deardorff_CdLS_general_GeneRev2020.pdf
- Dowsett_CdLS_other_AJMG2019.pdf
- Gupta_CdLS_GI_JPediatrSurg2020.pdf
- Huisman_CdLS_behaviour_NeurosciBiobehRev2018.pdf
- Huisman_CdLS_molec_JMedGenet2013.pdf
- Kline_CdLS_Consensus_NatRevGenet2018.pdf
- Krab_CdLS_molec_HumGenet2020.pdf
- Mulder_CdLS_behaviour_DevMedChildNeurol2017.pdf
- Mulder_CdLS_cognition_JChildPsycholPsychiatr2019.pdf
- Parma_CdLS_diet_AJMG2020.pdf
- Ramos_CdLS_molec_EJHG2015.pdf
- Sabus_CdLS_behaviour_Parmacother201928774.pdf
- Sarogni_CdLS_general_JMedGenet2020.pdf
- Shi_CdLS_eye_OphthalmicGenet2019.pdf
- Srivastava_CdLS_behaviour_JAutDevDis2020.pdf
- Watkins_CdLS_behaviour_JNeurodevDis2019.pdf
Costello
Crouzon
CutisLaxa
Del4p
Del5p
Del16p11.2
Del22q11
- Cancrini_Del22q11_Children_JPediatr2014.pdf
- Fung_Del22q11_Adults_GenetMed2015.pdf
- Habel_Del22q11_Children_EurJPediatr2014.pdf
- Jackson_Del22q11_Veluminsuff_IntJPediatrOtorhin2019.pdf
- Kruszka_Del22q11_Epidemiology_AJMG2017.pdf
- Lambert_Del22q11_Cancer_AJMG2018.pdf
- Lima_Del22q11_Agedependent_EurJPediatr2010.pdf
- Morsheimer_Del22q11_Immune_AJMG2017.pdf
- Schindewolf_Del22q11_Prenatal_AJMG2019.pdf
- Sood_Del22q11_Lung_CurrAllergAsthmaRep2018.pdf
- Swillen_Del22q11_Psychiatr_CurrOpinPsychiatr2016.pdf
- Woolman_Del22q11_Cardio_PediatrCardiol2019.pdf
- Yeoh_Del22q11_Perioperative_JCardiothorVascAnesth2014.pdf
Del22q13
DOOR
DOWN
- Bull_Down_Healthsupervision_Pediatr2011.pdf
- Hsie_Down_seizures_ClinPediatr2019.pdf
- Javed_DownTeeth_OrthodontCraniofacRes2018.pdf
- Knollman_Down_Polysomnography_Otolaryngol2019.pdf
- Najeeb_Down_Teeth_JEvidenBasDentPract2017.pdf
- ONeill_Down_Guidelineadherence_AJIDD2018.pdf
- Tu_Down_Cervinstabil_PediatrNeurosurg2019.pdf
- Tunstall_Down_Leukemia_BrJHaematol2018.pdf
- Wandresen_Down_Gynaecol_GynEndocrin2019.pdf
Dup17p11.2
DyskeratosisCongenita
EhlersDanlos
- Bulbena_EDS_behavior_AJMGc2017.pdf
- Byers_EDS_vascul_AJMGc2017.pdf
- Castori_EDS_hypermobilityscore_AJMGc2017.pdf
- Dutta_EDS_pregnancy_ObstetGynaecolCorp2011.pdf
- Eggebrecht_EDS_aorta_Herz2014.pdf
- Engelbert_EDS_fysio_AJMGc2017.pdf
- Fikree_EDS_gut_AJMGc2017.pdf
- Hakim_EDS_fatigue_AJMGc2017.pdf
- Joseph_EDS_face_JAMAFasPlastSurg2018.pdf
- Malfait_EDS_classic_AJMGc2017.pdf
- Mu_EDS_QoL_AJMG2019.pdf
- Remvig_EDS_hypermobilityscore_AJMG2014.pdf
- Rinner_EDS_periodontal_ClinOralImplRes2018.pdf
- Speake_EDS_colon_ColorectDis2019.pdf
- Zhou_EDS_pain_Medicine2018.pdf
FANCONI
FETALALCOHOL
- AlWattar_FAS_pregnancy_BJOG2017.pdf
- Brown_FAS_criteria_CanJPsychiatr2018.pdf
- Burd_FAS_review_NeurolTeratol2003.pdf
- Burd_FAS_scoring_Alcohol2010.pdf
- Denny_FAS_review_AmFamPhysician2017.pdf
- Gupta_FAS_review_AlcClinExpRes2016.pdf
- Klecka_FAS_polishscoring_PsychiatrPol2017.pdf
- Valentine_FAS_face_Pediatr2017.pdf
- Viljoen_FAS_reviewBirthDefRes2018.pdf
FetalAntoconvulsivant
FG
Floating-Harbor
FraX
- Abrams_FraX_children_Pediatr2012.pdf
- Bell_FraX_behavior_JIntellDisabilRes2018.pdf
- Berry-Kravis_FraX_tremorataxia_MovDis200729022.pdf
- Gallagher_FraX_review_JNeurol2012.pdf
- Gilbertson_FraX_behavior_DisHealthJ2019.pdf
- Hersh_FraX_children_Pediatr2011.pdf
- Leehey_FraX_ataxiatremor_JInvestMed2009.pdf
- Lozano_FraX_review_IntractRareDisRes2016.pdf
- McConkie-Rosell_FraX_counseling_JGenetCouns200529028.pdf
- Sabus_FraX_sibtherapy_JHumPharmacolDrugTher2019.pdf
- Sachdeva_FraX_guidelineIndia_IndianPediatr2019.pdf
- Taber_FraX_carrierscreening_MolGenetGenomMed2019.pdf
- Visootsak_Frax_clinic_AJMG2016.pdf
- Wheeler_FraX_aggression_JIntellDisRes2016.pdf
- Wheeler_FraX_hyperactivity_AJMG2014.pdf
Goltz-Gorlin
Gorlin
- Evans_Gorlin_general_Genereviews2018.pdf
- Foulkes_Gorlin_cancersurveillance_ClinCancerRes2017.pdf
- Huq_Gorlin_QoLphenotypimg_IntMedJ2017.pdf
- Kerbrat_Gorlin_rhabdochild_PediatrDermatol-2018.pdf
- Shariff_Gorlin_odontogeniccysts_CochraneDatabaseSystRev2015.pdf
- Witteveen_Gorlin_oralcyst_SAGE2019.pdf
- Zeeshan_Gorlin_ribspine_IntJSurg2020.pdf
Greig
Hereditary hemorrhagic telangiectasia
- Bari_HHT_pregnancy_IntJWomenHealth2017.pdf
- Faughnan_HHT_consensus_AnnInternMed2020.pdf
- Halderman_HHT_epistaxis_IntForumAllergyRhinol2018.pdf
- Jervis_HHT_screening_JLaryngolOtol2016.pdf
- Majumbar_HHT_pulmonAVmalf_JClinMed2020.pdf
- Silvain_HHT_liver_ClinResHepatGastroenterol2020.pdf
- Shovlin_HHT_molecular_Blood2020.pdf
- Tunkel_HHT_nosebleeds_OtolaryngolHeadNeckSurg2020.pdf
Holoprosencephaly
Hutchinson-Gilford progeria
Idic15
Incontinentia pigmenti
Kabuki
- Adam_Kabuki_review_ClinGenet2005.pdf
- Arnaud_Kabuki_review_ArchPediatr2015.pdf
- Cantoni_Kabuki_immuno_EurJIntMed2019.pdf
- Cudzilo_Kabuki_teeth_CleftPalatCraniofacJ2018.pdf
- Dentici_Kabuki_newborn_ArchDisChild2015.pdf
- Digilio_Kabuki_heart_AJMG2017.pdf
- Genevieve_Kabuki_review_AJMG2004.pdf
- Schrander-Stumpel_Kabuki_guidelines_AJMG2005.pdf
- Siminas_Kabuki_anorectmalf_EurJPediatrSurgRep2015.pdf
- Subbarayan_Kabuki_hypoglyc_AJMG2014.pdf
- Teranishi_Kabuki_Onco_JPediatrHematolOncol2018.pdf
Kleefstra
Klinefelter
- Bearelly_Klinefelter_general_F1000Res2019.pdf
- Chang_Klinefelter_Testosteron_AJMGc2020.pdf
- Giordano_Klinefelter_breastcancer_AnnInternMed2002.pdf
- Lunenfeld_Klinefelter_hypogonadism_AgingMale2015.pdf
- Mittnach_Klinefelter_QoL_ClinEndocrinol2019.pdf
- Oconnor_Klinefelter_diabetes_CurrDiabRep2019.pdf
- Richenberg_Klinefelter-testesmicrolithiasis_EurRadiol2015.pdf
- Tremblay_Klinefelter_counselingAcataPaediatr2016.pdf
- Yin_Klinefelter_hypogonadismchild_ExpOpinPharmacol2010.pdf
- Zganjar_Klinefelter_fertility_JClinEndocrinolMetab2020.pdf
Koolen-DeVries
Loeys-Dietz
Lymphedema-Lymphangiectasia-ID
- Alshikho_lymphIDgut_AmJCaseRep2016.pdf
- Frosk_lymphIDgeneral_BMCMedGenet2015.pdf
- Itkin_lymphIDthorax_ClinChestMed2016.pdf
- Ivanovski_lymphIDmolecular_AJMG2018.pdf
- Leducq_lymphIDskin_Trials2019.pdf
- Lopez_lymphIDgut_JPaediatrChildHealth2020.pdf
- Lu_lymphIDpregnancy_Medicine2017.pdf
- Macki_lymphIDpenis_BasicClinAndrol2019.pdf
- Malleske_lymphIDchylothorax_JPerinatol2015.pdf
- Pandya_lymphIDkidney_JClinDiagnRes2016.pdf
- Reiterer_lymphIDlung_PaedRespRev2014.pdf
MandibuloacralDysplasia
Marfan
- Boodhwani_Marfan_aorta-CanJCardiol2014.pdf
- Braverman_Marfan_sports_Circulation2015.pdf
- Castellano_Marfan_anesthesia_SemCardiothorVascAnesth2014.pdf
- Cervino_Marfan_oral_ArchOralBiol2020.pdf
- Cottrell_Marfan_pregnancy_JCardSurg2020.pdf
- Coulon_Marfan_pregnancy_PresseMed2015.pdf
- Hollenberg_Marfan_meningocele_WorldNeurosurg2018.pdf
- Loeys_Marfan_general_JMedGenet2010.pdf
- Ma_Marfan_pregnancy_EurJCardiothorSurg2020.pdf
- Muino_Marfan_molecular_CircGenomPrecisMed2018.pdf
- Poniedzialek_Marfan_pregnancyGinekolPol2019.pdf
- Smith_Marfan_pregnancy_CongHeartDis2017.pdf
- Thijssen_Marfan_sports_ExpRevCardiovascTher2019.pdf
- Tinkle_Marfan-generalchild_Pediatr2013.pdf
- Velvin_Marfan_QoL_ClinGenet2019.pdf
- VonKodolitsch_Marfan_other_ExpRevCardiovascTher2019.pdf
- Wong_Marfan-pneumothorax_ANZJSurg2019.pdf
Marshall-Smith
Meier-Gorlin
Menkes
- Akinseye_Menkesradiol_RadCaseRep2019.pdf
- Beyens_Menkesdd_Genes2019.pdf
- Gu_Menkesgrowth_JTraceElemMedMetabBiol2014.pdf
- Hebert_Menkesbladder_Urol2015.pdf
- Kaler_Menkesdevelopment_JTraceElemMedBiol2014.pdf
- Kaler_Menkesgeneral_Genereviews2016.pdf
- Molla_Menkesneuroimaging_JPaediatrNeurosci2017.pdf
- Moller_Menkesmolecular_Biobhimie2009.pdf
- Ojha_Menkesgeneral_JMultidiscHealthcare2016.pdf
- Smpokou_Menkesfemales_AJMG2015.pdf
- Stevens_Menkesneckveins_AJMG2020.pdf
- Vairo_Menkesgeneral_MolGenetMetab2019.pdf
Mowat-Wilson
- Adam_MowatWilson_general_Genereviews2019.pdf
- Besterman_MowatWilson_behaviour_JChildAdolescPsychopharm2015.pdf
- Conces_MowatWilson_neuropa_PediatrDevelopmPathol2020.pdf
- DiPisa_MowatWilson_sleep_SleepMed2019.pdf
- Evans_MowatWilson_behaviour_AJMG2012.pdf
- Evans_MowatWilson_sleep_AJMG2016.pdf
- Ivanovski_MowatWilson_growth_OrphanetJRareDis2020.pdf
- Ivanovski_Mowat-Wilson-general_GiM2018.pdf
- Niemczyk_Mowat-Wilson_behaviour_ResDevelopDis2017.pdf
- Spunton_MowatWilson_anesthesia_PediatrRep2018.pdf
- Zollino_MowatWilson_molecular_EJHG2011.pdf
Muenke
MyotonicDystrophy
- Boentert_MD_lung_Respir2020.pdf
- Ho_MD_child_ArchDisChild2019.pdf
- JimenezMoreno_MD_fractures_NeuromuscDis2018.pdf
- Kamsteeg_MD_molecular_EJHG2012.pdf
- Kusumoto_MD_heartrithm_Circul2019.pdf
- Kusumoto_MD_heartritm2_Circul2019.pdf
- Lau_MD_heart_IntJCardiol2015.pdf
- McKim_MD_homeventilation_CanRespirJ2011.pdf
- McNally_MD_heart_JAmHeartAssoc2020.pdf
- Morgenthaler_MD_sleep_Sleep2007.pdf
- Palladio_MD_heartchild_ActaMyol2016.pdf
- Petitclerc_MD_limbmuscle_MuscleNerve2015.pdf
- Schoser_MD_heart_NeurolClinPract2019.pdf
- Sirico_MD_heart_ActaMyol2020.pdf
Neurofibromatosis type1
- Alsharefi_NF1_pheochromocytoma_EndocrinConnec2018.pdf
- Bargiela_NF1_aneurysm_EurJRadiol2018.pdf
- Bergqvist_NF1_Frenchguidelines_OrphanetJRareDis2020.pdf
- Hill_NF1_glioma_ChildNervSyst2020.pdf
- Klesse_NF1_oncotreatment_Oncol0gist2020.pdf
- Miller_NF1_child_Pediatr2019.pdf
- Rukavina_NF1_stroke_EJMG2019.pdf
- Siebelt_NF2_pseudarthrosis_JPediatrOrthop2020.pdf
- Stewart_NF1_adult_GiM2018.pdf
- SuarezKelly_NF1_breastca_HeredCancClinPract2019.pdf
- Walsh_NF1_neurocognition_Neurology2016.pdf
Nicolaides-Baraitser
Noonan
- Addissie_Noonan_craniosynostosis_AJMG2015.pdf
- Artori_Noonan_coagulation_Pediatr2014.pdf
- Bhambhani_Noonan_review_AmFamPhys2014.pdf
- Chacko_Noonan_growth_CurrOpinEndocrinDiabObes2012.pdf
- Fonteles_Noonan_overbite_CleftPaateCraniofacJ2013.pdf
- Hakami_Noonan_prenatal_PrenatDiagn2016.pdf
- Kratz_Noonan_cancer_BrJCancer2015.pdf
- Lin_Noonan_seizures_BMCNeurol2018.pdf
- Morice_Noonan_coagulation_JOralMaxillofacSurg2018.pdf
- Ringle_Noonan_aneurysms_IntJCardiol2016.pdf
- Roberts_Noonan_review_Lancet2013.pdf
- Romano_Noonan_guidelines_Pediatr2010.pdf
- Silva_Noonan_nutrition_AJMG2016.pdf
- Vegunta_Noonan_pain_AJMG2015.pdf
- Wilkinson_Noonan_cardiomyopathy_AmHeartJ2012.pdf
Opitz GBBB
Osteodysplastic Primordial Dwarfism
OtoPalatoDigital
PallisterHall
PallisterKillian
PetersPlus
PIK3CArelated
Pitt-Hopkins
PKU
- DeCastro_PKUbone_Nutrients2020.pdf
- Evers_PKUEUguidelines_JIMD2020.pdf
- Longo_PKUpegvaliase_GIM2019.pdf
- Macdonald_PKUdiet_OrphanetJRareDis2020.pdf
- Muntau_PKUchild_OrphanetJRareDis2018.pdf
- Muntau_PKUsapropterin_MolGenetMetab2019.pdf
- Pugliese_PKUchild_OrphanetJRareDis2020.pdf
- Romani_PKUcognition_OrphanetKRareDis2019.pdf
- Trefz_PKUadult_EurJPediatr2015.pdf
- VanWegberg_PKUguidelinesEU_OrphanetJRareDis2017.pdf
- ZervajTansek_PKUguidelines_OrphanetJRareDis2015.pdf
Prader-Willi
- Abel_PWSsleep_SleepMed2017.pdf
- Butler_PWSgeneral_CurrPediatrRev2019.pdf
- Crino-Grugni_PWSdiabetes_CurrDiabRep2020.pdf
- Deal_PWScognition_EurJEndocrinol2020.pdf
- Deal_PWSgrowthhormone_JCEM2013.pdf
- Driscoll_PWSgeneral_Genereviews2017.pdf
- Edge_PWSgrowthhormone_CADTH2018.pdf
- EldarGeva_PWShypogonadism_AJMG2013.pdf
- Ho_PWSbehaviour_NeuropsychDisTreat2010.pdf
- Mackenzie_PWSdiet_AJMG2018.pdf
- McCandless_PWSgeneralchild_Pediatr2011.pdf
- Miller_PWSdiet_AdolscHealthMedTherap2020.pdf
- Rocha_PWSdiffdiagn_GenetMolRes2014.pdf
- Tan_PWShyperphagia_ObesRev2020.pdf
- VanBosse_PWSscoliosis_Genes2020.pdf
- Vogt_PWSgrowthhormone_Dis2015.pdf
- Whittington_PWSbehaviour_NeuosciBiobehavRec2020.pdf
- Zaffanello_PWSsleep_AnnTranslMed2018.pdf
Proteus
- Biesecker_Proteusgeneral_Genereviews2019.pdf
- Biesecker_Proteusmiransertib_ColdSpringHarborMolCaseStud2020.pdf
- Crenshaw_Proteusleglengthdiff_JPediatrOrthop2018.pdf
- EgeaGamez_Proteusscoliosis_WorldNeurosurg2020.pdf
- Hannoush_Proteusheart_AJMG2015.pdf
- KepplerNoreuil_Proteusthrombosis_AJMGc2019.pdf
- Leoni_Proteusmiransertib_AJMG2019.pdf
- Lougaris_Proteusimmuno_OrphanetJRareDis2016.pdf
- Popescu_Proteusgrowth_JMedLife2014.pdf
- Salinas_Proteussleep_IntJPediatrOtolaryngol2017.pdf
- Sapp_Proteusmolecular_AJMGc2019.pdf
- Sapp_Proteussurvival_GIM2017.pdf
- Sethi_Proteusanesthesia_JClin-Anesth2015.pdf
PTEN Hamartoma Tumor
RETT
- Amoako_Rettinterventions_JApplResIntellDis2020.pdf
- Downs_Rettscoliosis_Spine2009.pdf
- Fonzo_Rettphysther_BrainSci2020.pdf
- Fu_Rettgeneralchild_BMJPaedOpen2020.pdf
- Jefferson_Rettbone_PLoSOne2016.pdf
- Kaur_Rettgeneral_GeneReviews2019.pdf
- Kilian_Rettscoliosis_PediatrNeurol2017.pdf
- Leonard_Rettgrowthnutrition_JPediatrGastroenterolNutr2013.pdf
- Merbler_Rettsleep_JNeurodevDis2018.pdf
- Motil_Rettgastro_JPGN2020.pdf
- Neul_Rettcriteria_AnnNeurol2010.pdf
- Romano_Rettrehabtools_NeurodevNeurorehab2019.pdf
- Sandweiss_Retttherapy_LancetNeurol2020.pdf
- Schonewolf_Rettdiffdiagn_ClinGenet2019.pdf
- Semmel_Rettadaptivefunct_NeuropsychRev2019.pdf
- Townend_Rettcommunication_AugAlternComm2020.pdf
- Vignoli_Rettadults_AJMG2012.pdf
- Wandin_Rettcommunication_DisabRehab2015.pdf
ROBERTS
ROBINOW
Rothmund-Thomson
Rubinstein-Taybi
- Beets_RTS_growthAJMG2014.pdf
- Boot_RTS_cancer_AJMG2018.pdf
- Crawford_RTS_behaviour_JAutDevelopmDis2020.pdf
- Fergelot_RTS_review_AJMG2016.pdf
- Hennekam_RTS_review_EurJHumGenet2006.pdf
- Kaur_RTS_anesthesia_JClinAnesth2019.pdf
- Milani_RTS_review_ItalJPediatr2015.pdf
- Naik_RTS_lacrimalappar_Orbit2019.pdf
- Saettini_RTS_immuno_JClinImmuno2020.pdf
- Stevens_RTS_general_GeneReviews2019.pdf
- VanDeKar_RTS_keloid_BrJDermatol2014.pdf
Saethre-Chotzen
Sanfilippo
- Cohen_Sanfilippo_anesthesia_PedAnesth2017.pdf
- Conijn_Sanfilippo_parentalstress_JIMDRep2019.pdf
- Delgadillo_Sanfilippo_naturalhistory_OrphanetJRareDis2013.pdf
- Kong_Sanfilippo_treatment_EurJPharmacol2020.pdf
- Lavery_Sanfilippo_mortality_OrphanetJRareDis2017.pdf
- Lim_Sanfilippo_naturalhistory_AJMG2018.pdf
- Lin_Sanfilippo_heart_OrphanetJRareDis2019.pdf
- Muschol_Sanfilippo_growth_OrphanetJRareDis2019.pdf
- Nijmeijer_Sanfilippo_cognition_OrphanetJRareDis2019.pdf
- Tanwar_Sanfilippo_molecular_MetabBrainDis2019.pdf
- Valstar_Sanfilippo_cognition_OrphanetJRareDis2011.pdf
- Wagner_Sanfilippo_general_GeneReviews2019.pdf
- White_Sanfilippo_musculoskeletal_JPediatrOrthop2011.pdf
- Wilhelm_Sanfilippo_heart_MolGenetMetab2018.pdf
- Wolfenden_Sanfilippo_autism_JAutDevDis2017.pdf
- Zelei_Sanfilippo_epidemiology_OrphanetJRareDis2018.pdf
SHORT
SILVER-Russell
Simpson-Golabi-Behmel
Smith-Lemli-Opitz
Smith-Magenis
- Brendal_SmithMagenis_hearing_JSLHR2017.pdf
- Falco_SmithMagenis_molecular_ApplClinGenet2017.pdf
- Gandhi_SmithMagenis_sleep_JAutDevDis2020.pdf
- Guerin_SmithMagenis_skin_PediatrDermatol2015.pdf
- Huisman_SmithMagenis_SIB_NeurosciBiobehavRev2018.pdf
- Kaplan_SmithMagenis_sleep_CNSdrugs2020.pdf
- Li_SmithMagenis_scoliosis_Medicine2015.pdf
- Nag_SmithMagenis_autism_MolAut2018.pdf
- Nag_SmithMagenis_behaviour_JIntellDisab2020.pdf
- Nag_SmithMagenis_parentalstress_JIntellDisab2019.pdf
- Poisson_SmithMagenis_behaviour_OrphanetJRareDis2015.pdf
- Poisson_SmithMagenis_circadianriythm_IntJMolSci2019.pdf
- Powis_SmithMagenis_aggression_ResDevDisab2014.pdf
- Sabus_SmithMagenis_SIB_Pharmacother2019.pdf
- Shayota_SmithMagenis_behaviour_CurrOpinPsychiatr2019.pdf
- Sloneem_SmithMagenis_behaviour_JIDR2011.pdf
- Smith_SmithMagenis_general_GeneReviews2019.pdf
- Tricket_SmithMagenis_sleep_JNeurodevDis2018.pdf
Sotos
- Brioude_Sotos_cancer_NatRevEndocrinol2019.pdf
- Fickie_Sotos_adults_AJMG2011.pdf
- Foster_Sotos_aduls_AJMGc2019.pdf
- Kenny_Sotos_molecular_PediatrNephrol2011.pdf
- Lane_Sotos_autism_JAutDevDis2017.pdf
- Lane_Sotos_behaviour_JNeuropsychol2019.pdf
- Lane_Sotos_cognition_PLoSOne2016.pdf
- Pezzani_Sotos_heart_AJMG2020.pdf
- Sheth_Sotos_behaviour_AJMG2015.pdf
- TattonBrown_Sotos_general_GeneReviews2019.pdf
- Verhofste_Sotos_spine_JPediatrOrthop2020.pdf
Tricho-rhino-phalangeal
Trisomy 8
Trisomy 13
- Bruns_tri13_teeth_SpecCareDent2016.pdf
- Carey_tri13_general_AJMGc2016.pdf
- Carvajal_tri13_heart_PediatrCardiol2020.pdf
- Chung_tri13_parentperspective_AJMG2017.pdf
- Goel_tri13_mortality_AJMG2019.pdf
- Haug_tri13_prognosis_JAMAPediatr2017.pdf
- Janvier_tri13_parentperspective_AJMGc2016.pdf
- Josephsen_tri13_child_AJMGc2016.pdf
- Kett_tri13_prognosis_Pediatrics2020.pdf
- Kettler_tri13_sleep_AmJOrolaryngol2020.pdf
- Kitase_tri13_homecare_AJMG2017.pdf
- Meyer_tri13_survival_AJMG2016.pdf
- Nelson_tri13_surgery_JAMA2016.pdf
- Neubauer_tri13_ethics_AJMGc2020.pdf
- Nishi_tri13_prognosis_AJMG2018.pdf
- Satge_tri13_cancer_AJMG2017.pdf
- Springett_tri13_malformations_AJMG2015.pdf
- Swanson_tri13_heart_JThoraxCardiovascSurg2020.pdf
- Thurtle_tri13_cancer_JMedCaseRep2018.pdf
- Tsukamoto_tri13_anesthesia_AnesthProgr2017.pdf
- Weaver_tri13_bone_AJMG2020.pdf
- Weaver_tri13_QoL_CardiolYoung2020.pdf
- Wieser_tri13_skinAJMG2015.pdf
Trisomy 18
- Bruns_tri18_teeth_SpecCareDent2016.pdf
- Carey_tri18_general_AJMGc2016.pdf
- Carvajal_tri18_heart_PediatrCardiol2020.pdf
- Cereda_tri18_general_OrphanetJRareDis2012.pdf
- Goel_tri18_mortality_AJMG2019.pdf
- Haug_tri18_prognosis_JAMAPediatr2017.pdf
- Janvier_tri18_parentperspective_AJMGc2016.pdf
- Josephsen_tri18_child_AJMGc2016.pdf
- Karimnejad_tri18_ENT_IntJPediatrOtolaryngol2015.pdf
- Kett_tri18_prognosis_Pediatrics2020.pdf
- Kettler_tri18_sleep_AmJOrolaryngol2020.pdf
- Lorenz_tri18_surgery_CurrOpinPediatr2014.pdf
- Meyer_tri18_survival_AJMG2016.pdf
- Nelson_tri18_surgery_JAMA2016.pdf
- Neubauer_tri18_ethics_AJMGc2020.pdf
- Satge_tri18_cancer_AJMGc2016.pdf
- Sergi_tri18_cancer_AnnClinLabSci2018.pdf
- Springett_tri18_malformations_AJMG2015.pdf
- Swanson_tri18_heart_JThoraxCardiovascSurg2020.pdf
- Verrotti_tri18_epilepsy_Seizure2015.pdf
- Weaver_tri18_bone_AJMG2020.pdf
Tuberous sclerosis
- Annear_TS_general_FrontNeurol2019.pdf
- Curatolo_TS_NeuroPsych_LancetNeurol2015.pdf
- DeVries_TS_cognition_FrontNeurol2020.pdf
- DeVries_TS_cognition_JNeurodevDis2020.pdf
- Ebrahimi_TS_skin_JDDG2017.pdf
- Flotats_TS_child_Neuropediatr2018.pdf
- Frassanito_TS_astrocytoma_ChildNerbSyst2020.pdf
- Goyal_TS_oralpain_JFamilyMedPrimCare2020.pdf
- Harari_TS_LAM_CurrOpinPulmMed2018.pdf
- Jansen_TS_QoL_FrontNeurol2020.pdf
- Kingswood_TS_kidney_Nephron2016.pdf
- Mitchell_TS_autism_SystRev2017.pdf
- Nair_TS_kidney_JKCVHL2020.pdf
- Negosanti_TS_skin_JCosmDermatol2018.pdf
- Northrup_TS_general_GeneReviews2020.pdf
- Ogorek_TS_molecular_GenetMed2020.pdf
- Pfirmann_TS_adults_JMedGenet2020.pdf
- Samanta_TS_autism_PediatrNeurol2020.pdf
- Specchio_TS_autism_FrontNeurol2020.pdf
- Trnka_TS_kidney_PediatrNephrol2020.pdf
- VanderPoest_TS_seizur2020.pdf
- Zollner_TS_QoL_OrphanetJRareDis2020.pdf
Tumer
- AAP_Turner_childgeneral_Pediatr2017.pdf
- Acosta_Turner_bone_JAmAcadOrthopSurg2019.pdf
- AlBluwi_Turner_coeliacdisease_BMJOpen2020.pdf
- AlvarezNava_Turner_hearing_ApplClinGenet2020.pdf
- Bertapelli_Turner_growth_BiomedResInt2014.pdf
- Bouet_Turner_fertility_JObstetGynaecolCan2016.pdf
- Calcaterra_Turner_diet_MedPrincPract2019.pdf
- Cleemann_Turner_growth_JCEM2020.pdf
- Coulon_Turner_aorta_PresseMed2015.pdf
- Davis_Turner_heart_AJMGc2019.pdf
- Hyuk_Turner_fetilitymosaicism_AJMG2017.pdf
- Kuba_Turner_hearing_ClinOtolaryngol2017.pdf
- Kwon_Turner_cancer_HormCanc2017.pdf
- Lin_Turner_adults_AJMG2019.pdf
- Lleo_Turner_immuno_AutoimmRev2012.pdf
- Lucaccioni_Turner_transition_BrMedBull2015.pdf
- Nadeem_Turner_growthJPediatrEndocrinolMetab2012.pdf
- Nygren_Turner_voice_ClinEndocrinol2019.pdf
- Oktay_Turner_fertility_JPediatrAdolescGynecol2016.pdf
- Shah_Turner_adults_Climacteric2018.pdf
- Sheanon_Turner_transition_JPediatrEndocrinMetab2020.pdf
- Viuff_Turner_adults_EndocrinConnect2019.pdf
- Wolff_Turner_lab_GenetMed2010.pdf
- Wolstencroft_Turner_behaviour_ChildCareHealthDev2020.pdf
Upd14
Waardenburg
- Hart_Waardenburg_Neuraltubedefects_AJMG2017.pdf
- Jalilian_Waardenburg_general_IJMCM2018.pdf
- Kontorinis_Waardenburg_hearing_OtolNeurotol2011.pdf
- Kontorinis_Waardenburg_Imaging_IntJPedOtorhinolaryngol2014.pdf
- Milunsky_Waardenburg_general_GeneReviews2017.pdf
- Nishio_Waardenburg_hearing_ActaOtoLaryngol2016.pdf
- Peker_Waardenburg_aneshtesia_TurkJAnaesthReanim2015.pdf
- Pingaults_Waardenburg_molecular_HumMutat2010.pdf
- Que_Waardenburg_skin_ClinDermatol2015.pdf
- Ringer_Waardenburg_hearing_JPediatrHealthCare2019.pdf
- Saleem_Waardenburg_piebaldism_PediatrDermatol2019.pdf
- Shelby_Waardenburg_molecular_JRareDisResTreat2017.pdf
- Song_Waardenburg_hearing_ClinGenet2016.pdf
Weaver
Werner
- David_Werner_imaging_DiagnInterventImag2017.pdf
- Friedrich_Werner_molecular_HumMutat2010.pdf
- Hameed_Werner_cancer_AdvAnatPathol2018.pdf
- He_Werner_diabetes_EndocrinJ2019.pdf
- Lauper_Werner_cancer_PLoSOne2013.pdf
- Lebel_Werner_molecular_AgingResRev2018.pdf
- Oshima_Werner_general_AgeingResRev2017.pdf
- Oshima_Werner_general_GeneReviews2016.pdf
- Yokote_Werner_molecular_HumMutat2017.pdf
Wiedemann-Rautenstrauch
Wiedemann-Steiner
- Aggarwal_WiedStein_general_EJMG2017.pdf
- Baer_WiedStein_cognition_ClinGenet2018.pdf
- Chan_WiedStein_behaviour_NPJGenomMed2019.pdf
- Feldman_WiedStein_adults_AJMG2019.pdf
- Giangiobbe_WiedStein_spine_AJMG2020.pdf
- Li_WiedStein_molecular_OrphanetJRareDis2018.pdf
- Stoyle_WiedStein_growth_EndocrinDiabMetab2018.pdf
- Vallianatos_WiedStein_behaviour_CommBiol2020.pdf
Williams
- Bedeschi_Williams_adults_AJMG2011.pdf
- Cherniske_Williams_adults_AJMG2004.pdf
- Collins_Williams_heart_Circul2013.pdf
- Collins_Williams_heart_CongHeartDis2017.pdf
- Collins_Williams_heart_CurrOpinPediatr2018.pdf
- Committee_Williams_guidelines_Pediatr2001.pdf
- DohertySneddon_Williams_behavior_JChildPsychPsychiatr2012.pdf
- Fricke_Williams_cardiosurg_AnnThoracSurg2015.pdf
- Furusawa_Williams_hypertension_RecAssocMedBras2018.pdf
- Helfrich_Williams_hypercalcemia_JPedEndocrMet2015.pdf
- MachadoViana_Williams_eye_OphthalmolGenet2015.pdf
- Martens_Williams_psychiatr_ResDevDis2012.pdf
- Matisoff_Williams_anesthesia_PedAnesth2015.pdf
- Myne_Williams_hyperacusis_IntJPedOtorhinolar2018.pdf
- PalaciosVerdu_Williams_metabolic_JMG2015.pdf
- Pober_Williams_adults_AJMGc2007.pdf
- Sammour_Williams_voiding_JUrol2012.pdf
- SaunaAho_Williams_dementia_MolGenetGenomMed2018.pdf
- Thornburg_Williams_lymphoma_JPedHematolOncol2005.pdf
- Valdes_Williams_depression_JAutDevelopDis2018.pdf
- VanLierde_Williams_transition_AJMG2013.pdf
- Waxler_Williams_information_AJMG2013.pdf