Found: 10
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Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1578, doi. 10.1002/ajmg.a.38830
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- Article
Phenotypic Variability in Patients with Osteogenesis Imperfecta Caused by BMP1 Mutations.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3150, doi. 10.1002/ajmg.a.37958
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- Article
Diagnostic Conundrums in Antenatal Presentation of a Skeletal Dysplasia with Description of a Heterozygous C-Propeptide Mutation in COL1A1 Associated with a Severe Presentation of Osteogenesis Imperfecta.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3303, doi. 10.1002/ajmg.a.37943
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- Article
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1763, doi. 10.1002/ajmg.a.37081
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- Article
CRTAP mutation in a patient with Cole-Carpenter syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 587, doi. 10.1002/ajmg.a.36916
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- Article
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 386, doi. 10.1002/ajmg.a.36285
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- Article
Bilateral giant retinal tears in Osteogenesis Imperfecta.
- Published in:
- BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0521-0
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- Article
Type 1 collagenopathy presenting with a Russell-Silver phenotype.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1414, doi. 10.1002/ajmg.a.33998
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- Article
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.
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- Human Mutation, 2006, v. 27, n. 7, p. 716, doi. 10.1002/humu.9430
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- Article
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.
- Published in:
- Genes, 2019, v. 10, n. 10, p. 762, doi. 10.3390/genes10100762
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- Article