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- Journal Article
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- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
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- Journal Article
- A1
- open access
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046 -
A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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Arterial tortuosity syndrome : 40 new families and literature review