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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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A clinical scoring system for congenital contractural arachnodactyly
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VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum
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Health-related quality of life in children and young adults with Marfan syndrome
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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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De arts van morgen moet vertrouwd zijn met de basisbegrippen van de genetica
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- Journal Article
- A2
- open access
Creatine transporter defect masquerading as Lujan 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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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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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
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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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Delineation of a clinical scoring system and diagnostic criteria for CCA
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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 -
Cardiovascular manifestations in inherited connective tissue disorders
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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Classic Ehlers-Danlos syndrome
(2018) GeneReviews®. -
Osteogenesis imperfecta
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Attitudes of European geneticists regarding expanded carrier screening
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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Arterial tortuosity syndrome : 40 new families and literature review
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Arterial tortuosity syndrome : 37 new families and literature review
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome : a randomized, double-blind clinical trial
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- Journal Article
- A1
- open access
Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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The 2017 International Classification of the Ehlers-Danlos Syndromes
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
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Arterial tortuosity syndrome : 29 novel families
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- Journal Article
- A1
- open access
Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin
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Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management
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Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts
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Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts
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Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos syndrome
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome
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Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Congenital contractural arachnodactyly : delineation of clinical criteria