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    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
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    • Online Genetics Course APOGeE
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Home > For Clinicians > List Of Publications > Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

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A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients
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ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

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