Show
Sort by
-
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
-
Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
-
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
-
Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
-
Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
-
Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview
-
Y RIN2 syndrome : expanding the clinical phenotype
-
Recurrent duplications of 17q12 associated with variable phenotypes
-
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
-
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1