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Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms.
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- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 567, doi. 10.1038/sj.ejhg.5201590
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- Article
Uptake of BRCA1/BRCA2 predictive genetic testing in an Irish population is low: a missed opportunity.
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- Irish Journal of Medical Science, 2023, v. 192, n. 4, p. 1607, doi. 10.1007/s11845-022-03176-7
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- Article
Implementation of a Luminex-based CF Assay at NCMG -- A Validation Experience.
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- Ulster Medical Journal, 2008, v. 77, n. 1, p. 74
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- Article
Detection of novel germline mutations for breast cancer in non- BRCA1/ 2 families.
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- FEBS Journal, 2015, v. 282, n. 17, p. 3424, doi. 10.1111/febs.13352
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- Article
Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome.
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- Familial Cancer, 2012, v. 11, n. 3, p. 509, doi. 10.1007/s10689-012-9544-4
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- Article
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
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- Human Mutation, 2010, v. 31, n. 4, p. 421, doi. 10.1002/humu.21196
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Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)
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- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #629 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Article