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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization
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- Journal Article
- A1
- open access
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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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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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
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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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- 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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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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Arterial tortuosity syndrome : 40 new families and literature review
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene