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COL1‐related overlap disorder : a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap
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- Journal Article
- A1
- open access
Zebrafish : a resourceful vertebrate model to investigate skeletal disorders
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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- Journal Article
- A1
- open access
Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta : a follow-up study
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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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- 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 -
Vascular aspects of the Ehlers-Danlos syndromes
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P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye
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Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
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BPS804 anti-sclerostin antibody in adults with moderate osteogenesis imperfecta : results of a randomized phase 2a trial