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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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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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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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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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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
-
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type