Found: 18
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Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification.
- Published in:
- Neurology India, 2011, v. 59, n. 6, p. 803, doi. 10.4103/0028-3886.91355
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- Publication type:
- Article
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
- Published in:
- 2006
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- Publication type:
- journal article
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371
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- Publication type:
- Article
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
- Published in:
- Annals of Neurology, 2015, v. 77, n. 2, p. 206, doi. 10.1002/ana.24303
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- Publication type:
- Article
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
- Published in:
- Nature Biotechnology, 2015, v. 33, n. 7, p. 689, doi. 10.1038/nbt.3237
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- Publication type:
- Article
Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays.
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- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009921
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- Publication type:
- Article
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests.
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- Archives of Pathology & Laboratory Medicine, 2015, v. 139, n. 4, p. 481, doi. 10.5858/arpa.2014-0250-CP
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- Publication type:
- Article
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0508-z
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- Publication type:
- Article
Microarray-based mutation detection in the dystrophin gene.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. 1091, doi. 10.1002/humu.20831
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- Publication type:
- Article
Hierarchical mutation screening protocol for the BRCA1 gene.
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- Human Mutation, 2000, v. 16, n. 5, p. 422, doi. 10.1002/1098-1004(200011)16:5<422::AID-HUMU7>3.0.CO;2-3
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- Publication type:
- Article
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
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- Human Mutation, 2017, v. 38, n. 1, p. 122, doi. 10.1002/humu.23064
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- Publication type:
- Article
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
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- Human Mutation, 2016, v. 37, n. 6, p. 559, doi. 10.1002/humu.22982
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- Publication type:
- Article
Clinical Applications and Implications of Common and Founder Mutations in Indian Subpopulations.
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- Human Mutation, 2015, v. 36, n. 1, p. 1, doi. 10.1002/humu.22704
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- Publication type:
- Article
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data.
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- Human Mutation, 2013, v. 34, n. 9, p. 1183, doi. 10.1002/humu.22364
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- Publication type:
- Article
Early and consistent pattern of proximal weakness in GNE myopathy.
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- Muscle & Nerve, 2021, v. 63, n. 2, p. 199, doi. 10.1002/mus.27117
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- Publication type:
- Article
DIAGNOSTIC OVERVIEW OF BLOOD-BASED DYSFERLIN PROTEIN ASSAY FOR DYSFERLINOPATHIES.
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- Muscle & Nerve, 2014, v. 50, p. 333, doi. 10.1002/mus.24195
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- Publication type:
- Article
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
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- Muscle & Nerve, 2014, v. 50, n. 3, p. 333, doi. 10.1002/mus.24195
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- Publication type:
- Article
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 6, p. 931, doi. 10.1002/mus.23763
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- Publication type:
- Article