Found: 34
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The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 11, p. 1893, doi. 10.1007/s00467-014-2994-1
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- Publication type:
- Article
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
VarioML framework for comprehensive variation data representation and exchange.
- Published in:
- BMC Bioinformatics, 2012, v. 13, n. 1, p. 254, doi. 10.1186/1471-2105-13-254
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- Publication type:
- Article
The human type I collagen mutation database.
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 1, p. 181, doi. 10.1093/nar/25.1.181
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- Publication type:
- Article
Mutations in COL1A1 Gene Change Dentin Nanostructure: A Response.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2018, v. 301, n. 8, p. 1307, doi. 10.1002/ar.23814
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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
The role of a bioresource research impact factor as an incentive to share human bioresources.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Clarity and claims in variation/mutation databasing.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.
- Published in:
- 2024
- By:
- Publication type:
- Letter
A common classification framework for histone sequence alterations in tumours: an expert consensus proposal.
- Published in:
- Journal of Pathology, 2021, v. 254, n. 2, p. 109, doi. 10.1002/path.5666
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- Publication type:
- Article
Re: Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Letters to the editors.
- Published in:
- Journal of Orthopaedic Research, 2006, v. 24, n. 7, p. 1571, doi. 10.1002/jor.20072
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- Publication type:
- Article
Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D873, doi. 10.1093/nar/gkt1198
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- Publication type:
- Article
The collαgen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles.
- Published in:
- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0175582
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- Publication type:
- Article
The Human Variome Project (HVP) 2009 Forum 'Towards Establishing Standards'.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. 366, doi. 10.1002/humu.21175
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- Publication type:
- Article
A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 391, doi. 10.1002/humu.1380030411
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- Publication type:
- Article
Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 324, doi. 10.1002/humu.1380030327
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- Publication type:
- Article
Re: Long-term evaluation of anabolic and anti-resorptive agents in adults with familial osteoporosis due to pro205ala variant of the col1a1 gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter
The Human Collagen Mutation Database 1998.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 1, p. 255, doi. 10.1093/nar/26.1.253
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- Publication type:
- Article
Locus Reference Genomic sequences: an improved basis for describing human DNA variants.
- Published in:
- Genome Medicine, 2010, v. 2, n. 4, p. 1, doi. 10.1186/gm145
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- Publication type:
- Article
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 3, doi. 10.1002/humu.24144
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- Publication type:
- Article
hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1803, doi. 10.1002/humu.23615
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- Publication type:
- Article
VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 61, doi. 10.1002/humu.23348
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- Publication type:
- Article
HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
- Published in:
- Human Mutation, 2016, v. 37, n. 6, p. 564, doi. 10.1002/humu.22981
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- Publication type:
- Article
LSDBs and How They Have Evolved.
- Published in:
- Human Mutation, 2016, v. 37, n. 6, p. 532, doi. 10.1002/humu.22979
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- Publication type:
- Article
Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 957, doi. 10.1002/humu.22841
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- Publication type:
- Article
Variobox: Automatic Detection and Annotation of Human Genetic Variants.
- Published in:
- Human Mutation, 2014, v. 35, n. 2, p. 202, doi. 10.1002/humu.22474
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- Publication type:
- Article
Solving bottlenecks in data sharing in the life sciences.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1494, doi. 10.1002/humu.22123
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- Publication type:
- Article
Curating gene variant databases (LSDBs): Toward a universal standard.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 291, doi. 10.1002/humu.21626
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- Publication type:
- Article
Guidelines for establishing locus specific databases.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 298, doi. 10.1002/humu.21646
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- Publication type:
- Article
WAVe: web analysis of the variome.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 729, doi. 10.1002/humu.21499
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- Publication type:
- Article
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).
- Published in:
- Human Mutation, 2010, v. 31, n. 11, p. 1179, doi. 10.1002/humu.21339
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- Publication type:
- Article
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Glyl003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 6, p. 286, doi. 10.1111/j.1399-0004.1996.tb03790.x
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- Publication type:
- Article