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Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
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- Journal Article
- A1
- open access
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
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- Journal Article
- A1
- open access
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation
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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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Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum
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Defective protein glycosylation in patients with cutis laxa syndrome
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LOCALIZATION OF A GENE FOR NON-SYNDROMIC HEARING-LOSS (DFNA5) TO CHROMOSOME 7P15