Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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June 13, 2023
Further delineation of SCAF4-associated NDDs
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June 13, 2023
Fetal form of Tonne-Kalscheuer syndrome (TOKAS) associated with variants in RLIM
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June 13, 2023
Refinement of the clinical and radiological phenotype of patients carrying bi allelic pathogenic MED23 variants
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May 22, 2023
LRRC8A de novo variant
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May 17, 2023
SETD5 prenatal phenotype: a review
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May 17, 2023
Further expansion of the MAP4K4-related phenotype
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May 12, 2023
Expanding the phenotype of PBX1 syndrome
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May 12, 2023
Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene
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May 12, 2023
Functional testing of UBE2O variants
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May 12, 2023
Pathogenic variants in PUS7 are responsible for IDDABS but could also be related to Tsukahara syndrome