Found: 25
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Quality control in mutation analysis: the European Molecular Genetics Quality Network (EMQN).
- Published in:
- 2001
- By:
- Publication type:
- journal article
Rapid sexing of native amniotic cells by hybridization to a cloned Y chromosome DNA probe.
- Published in:
- Journal of Perinatal Medicine, 1986, v. 14, n. 2, p. 127
- By:
- Publication type:
- Article
Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 208, doi. 10.1038/13837
- By:
- Publication type:
- Article
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 808, doi. 10.1038/ejhg.2014.191
- By:
- Publication type:
- Article
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 208, doi. 10.1038/ejhg.2013.108
- By:
- Publication type:
- Article
A standardized framework for the validation and verification of clinical molecular genetic tests.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1276, doi. 10.1038/ejhg.2010.101
- By:
- Publication type:
- Article
Klassifizierung von 'variants of unknown significance' (VUS) beim familiären Brust- und Eierstockkrebs.
- Published in:
- Medizinische Genetik, 2015, v. 27, n. 2, p. 211, doi. 10.1007/s11825-015-0049-z
- By:
- Publication type:
- Article
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2024, doi. 10.1093/brain/awm096
- By:
- Publication type:
- Article
Confirmation of warfarin resistance of naturally occurring VKORC1 variants by coexpression with coagulation factor IX and in silico protein modelling.
- Published in:
- BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-17
- By:
- Publication type:
- Article
Novel mutations in the VKORC1 gene of wild rats and mice -- a response to 50 years of selection pressure by warfarin?
- Published in:
- BMC Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2156-10-4
- By:
- Publication type:
- Article
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
- Published in:
- Nature, 2004, v. 427, n. 6974, p. 537, doi. 10.1038/nature02214
- By:
- Publication type:
- Article
Distribution and frequency of VKORC1 sequence variants conferring resistance to anticoagulants in Mus musculus.
- Published in:
- Pest Management Science, 2012, v. 68, n. 2, p. 254, doi. 10.1002/ps.2254
- By:
- Publication type:
- Article
Compound heterozygous mutations in the γ-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.
- Published in:
- British Journal of Haematology, 2004, v. 126, n. 4, p. 546, doi. 10.1111/j.1365-2141.2004.05071.x
- By:
- Publication type:
- Article
Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
- Published in:
- BMC Cell Biology, 2004, v. 5, p. 12, doi. 10.1186/1471-2121-5-12
- By:
- Publication type:
- Article
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E490, doi. 10.1002/humu.20941
- By:
- Publication type:
- Article
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 3, p. 468
- By:
- Publication type:
- Article
Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2944, doi. 10.1093/hmg/ddm255
- By:
- Publication type:
- Article
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 379, doi. 10.1093/hmg/ddg032
- By:
- Publication type:
- Article
Identification of four novelmutations in the C-terminal membrane spanning domain of the ryanodinereceptor 1: association with central core disease and alterationof calcium homeostasis.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2879, doi. 10.1093/hmg/10.25.2879
- By:
- Publication type:
- Article
Replication errors may contribute to the generation of large deletions and duplications in the dystrophin gene.
- Published in:
- Human Mutation, 1992, v. 1, n. 4, p. 280, doi. 10.1002/humu.1380010403
- By:
- Publication type:
- Article
Mapping Undetected Mutations within a Gene - Evidence for Two Preferential Regions in the DMD Gene.
- Published in:
- Human Heredity, 1997, v. 47, n. 2, p. 61, doi. 10.1159/000154393
- By:
- Publication type:
- Article
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 10, p. 1853
- By:
- Publication type:
- Article
Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
- Published in:
- Biological Chemistry, 2005, v. 386, n. 1, p. 61, doi. 10.1515/BC.2005.008
- By:
- Publication type:
- Article