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ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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LTBP1 promotes fibrillin incorporation into the extracellular matrix
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- Journal Article
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EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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- Journal Article
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Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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- Journal Article
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IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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- Journal Article
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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- Journal Article
- A1
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
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FOXP1-related intellectual disability syndrome : a recognisable entity
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
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Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
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Redefining the MED13L syndrome
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Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
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The new Ghent criteria for Marfan syndrome: what do they change ?
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
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Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
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Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands