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A clinical scoring system for congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Arterial tortuosity syndrome : 40 new families and literature review
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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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- 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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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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- Conference Paper
- C3
- open access
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
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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