Found: 15
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Lethal/Severe Osteogenesis Imperfecta in a Large Family: A Novel Homozygous Mutation and Bone Histological Findings.
- Published in:
- Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 228, doi. 10.2350/10-03-0806-CR.1
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- Publication type:
- Article
Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses.
- Published in:
- JRSM Open, 2023, v. 14, n. 12, p. 1, doi. 10.1177/20542704231215970
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- Publication type:
- Article
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 6, p. 675, doi. 10.1001/jamadermatol.2014.4900
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- Publication type:
- Article
Fatigue in adults with Osteogenesis Imperfecta.
- Published in:
- 2020
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- Publication type:
- journal article
Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1178, doi. 10.1002/ajmg.a.36784
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- Publication type:
- Article
Genetic testing in patients with unexplained coronary aneurysms or dilation.
- Published in:
- 2024
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- Publication type:
- Case Study
Clinical utility gene card for: osteogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 1, doi. 10.1038/ejhg.2012.210
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- Publication type:
- Article
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 11, doi. 10.1038/ejhg.2011.141
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- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- 2009
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- Publication type:
- Correction Notice
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
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- Publication type:
- Article
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
- Published in:
- 2024
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- Publication type:
- Letter
Facilitating genetic testing after death: the ongoing duty of care to the deceased and their relatives.
- Published in:
- Journal of the Royal Society of Medicine, 2023, v. 116, n. 6, p. 193, doi. 10.1177/01410768231182836
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- Publication type:
- Article
Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don'ts in Clinical Practice.
- Published in:
- Case Reports in Oncology, 2019, v. 12, n. 1, p. 322, doi. 10.1159/000499903
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- Publication type:
- Article
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome.
- Published in:
- Journal of Clinical Periodontology, 2022, v. 49, n. 12, p. 1244, doi. 10.1111/jcpe.13698
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- Publication type:
- 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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- Publication type:
- Article