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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
New insights on the clinical variability of FKBP10 mutations
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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Lack of bone mineralization in a TANGO1 deficient patient
(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 28(Supplement 1). p.254-255 -
- 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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Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix
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- Journal Article
- A1
- open access
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
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Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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- Conference Paper
- C3
- open access
Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.
(2019) -
- Conference Paper
- C3
- open access
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum