Found: 19
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Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).
- Published in:
- JBMR Plus, 2020, v. 4, n. 3, p. 1, doi. 10.1002/jbm4.10335
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- Publication type:
- Article
Cranio‐cervical abnormalities in moderate‐to‐severe osteogenesis imperfecta – Genotypic and phenotypic determinants.
- Published in:
- Orthodontics & Craniofacial Research, 2024, v. 27, n. 2, p. 237, doi. 10.1111/ocr.12707
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- Publication type:
- Article
Hereditary Connective Tissue Diseases and Risk of Post-Acute SARS-CoV-2.
- Published in:
- Viruses (1999-4915), 2024, v. 16, n. 3, p. 461, doi. 10.3390/v16030461
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- Publication type:
- Article
Chloride Transport Across Vesicle and Cell Membranes by Steroid-Based Receptors ( Financial support for this work was provided by the EPSRC (GR/R04584/01), the University of Bristol, the CF Trust, the NKRF, the NSF (USA), the Walther Cancer Institute, and the Royal Society. )
- Published in:
- Angewandte Chemie, 2003, v. 115, n. 40, p. 5081, doi. 10.1002/ange.200351957
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- Publication type:
- Article
Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.566
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- Publication type:
- Article
Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 77, doi. 10.1002/mgg3.181
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- Publication type:
- Article
Chloride Transport Across Vesicle and Cell Membranes by Steroid-Based Receptors ( Financial support for this work was provided by the EPSRC (GR/R04584/01), the University of Bristol, the CF Trust, the NKRF, the NSF (USA), the Walther Cancer Institute, and the Royal Society. )
- Published in:
- Angewandte Chemie International Edition, 2003, v. 42, n. 40, p. 4931, doi. 10.1002/anie.200351957
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- Publication type:
- Article
Factors affecting the duration of phase I of dexamethasone - cyclophosphamide pulse therapy.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2014, v. 80, n. 4, p. 296, doi. 10.4103/0378-6323.136831
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- Publication type:
- Article
Clinical, bacteriological, and histopathological characteristics of children with leprosy: A retrospective, analytical study in dermatology outpatient department of tertiary care centre.
- Published in:
- Indian Journal of Paediatric Dermatology, 2014, v. 15, n. 1, p. 16, doi. 10.4103/2319-7250.131830
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- Publication type:
- Article
Nasal dermoid sinus cyst in a young female.
- Published in:
- 2013
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- Publication type:
- Case Study
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 4, p. 1, doi. 10.1101/mcs.a006319
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- Publication type:
- Article
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 16, p. 3446, doi. 10.1093/hmg/ddw186
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- Publication type:
- Article
Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 124, doi. 10.1002/ajmg.c.31772
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- Publication type:
- Article
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
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- Publication type:
- Article
The variability of SMARCA4‐related Coffin–Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2058, doi. 10.1002/ajmg.a.61732
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- Publication type:
- Article
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2789, doi. 10.1002/ajmg.a.38383
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- Publication type:
- Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
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- Publication type:
- Article
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2711, doi. 10.1002/ajmg.a.37809
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- Publication type:
- Article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
- Published in:
- 2021
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- Publication type:
- journal article