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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
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Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview
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Y RIN2 syndrome : expanding the clinical phenotype
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Further delineation of facioaudiosymphalangism syndrome : description of a family with a novel NOG mutation and without hearing loss
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Association between Kniest dysplasia and chondrosarcoma in a child
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1