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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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- Journal Article
- A1
- open access
Somatic symptoms, pain, catastrophizing and the association with disability among children with heritable connective tissue disorders
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Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families
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- Journal Article
- A1
- open access
Heritable connective tissue disorders in childhood : decreased health-related quality of life and mental health
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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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