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Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer.
- Published in:
- Clinical Genetics, 1995, v. 48, n. 6, p. 299, doi. 10.1111/j.1399-0004.1995.tb04113.x
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- Publication type:
- Article
Incidence of Fragile X syndrome in Ireland.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 678, doi. 10.1002/ajmg.a.38081
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- Publication type:
- Article
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.
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- Kidney International, 2013, v. 84, n. 2, p. 327, doi. 10.1038/ki.2013.100
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- Publication type:
- Article
In Search of an Uncultured Human-Associated TM7 Bacterium in the Environment.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021280
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- Publication type:
- Article
Quality control in molecular genetic testing.
- Published in:
- 2001
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- Publication type:
- research
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 160, doi. 10.1038/ejhg.2013.125
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- Publication type:
- Article
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 480, doi. 10.1038/ejhg.2012.200
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- Publication type:
- Article
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 478, doi. 10.1038/ejhg.2012.189
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- Publication type:
- Article
Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.
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- European Journal of Human Genetics, 2012, v. 20, n. 11, p. 1118, doi. 10.1038/ejhg.2012.125
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- Publication type:
- Article
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.
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- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 857, doi. 10.1038/ejhg.2011.59
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- Publication type:
- Article
Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.
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- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 10, doi. 10.1038/ejhg.2010.135
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- Publication type:
- Article
Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 500, doi. 10.1038/sj.ejhg.5201322
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- Publication type:
- Article
Investigation of DNA variants specific to ROBO2 Isoform 'a' in Irish vesicoureteric reflux patients reveals marked CpG island variation.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58818-6
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- Publication type:
- Article
THE SEARCH FOR GENES INVOLVED IN VESICOURETERIC REFLUX.
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- Ulster Medical Journal, 2009, v. 78, n. 1, p. 74
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- Publication type:
- Article
RET VARIATION IN THE AETIOLOGY OF VESICOURETERIC REFLUX.
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- Ulster Medical Journal, 2009, v. 78, n. 1, p. 73
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- Publication type:
- Article
Estimating carrier risks by linkage in a Duchenne Muscular Dystrophy family with a triple X female.
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- Ulster Medical Journal, 2008, v. 77, n. 1, p. 76
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- Publication type:
- Article
Implementation of a Luminex-based CF Assay at NCMG -- A Validation Experience.
- Published in:
- Ulster Medical Journal, 2008, v. 77, n. 1, p. 74
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- Publication type:
- Article
Detection of subtelomeric rearrangements in children with unexplained mental retardation using Multiplex Ligationdependent Probe Amplification.
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- Ulster Medical Journal, 2008, v. 77, n. 1, p. 73
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- Publication type:
- Article
Use of the Promega Powerplex 16 kit to exclude maternal cell contamination in prenatal testing.
- Published in:
- Ulster Medical Journal, 2008, v. 77, n. 1, p. 70
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- Publication type:
- Article
EuroGentest: Quality Management and accreditation of genetic testing services.
- Published in:
- Ulster Medical Journal, 2008, v. 77, n. 1, p. 67
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- Publication type:
- Article
The Single-Access Technique for Impella Protected Percutaneous Coronary Intervention: A Single-Center Experience.
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- Journal of Invasive Cardiology, 2022, v. 34, n. 3, p. E190
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- Publication type:
- Article
Isolation, Chromosomal Mapping, and Expression of the Mouse Tyrosinase Gene.
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- Journal of Investigative Dermatology, 1989, v. 93, n. 5, p. 589, doi. 10.1111/1523-1747.ep12319693
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- Publication type:
- Article
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
- Published in:
- 1999
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- Publication type:
- journal article
Predictors of high-degree atrioventricular block in patients with new-onset left bundle branch block following transcatheter aortic valve replacement.
- Published in:
- Journal of Interventional Cardiac Electrophysiology, 2022, v. 65, n. 3, p. 765, doi. 10.1007/s10840-022-01361-3
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- Publication type:
- Article
The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E612, doi. 10.1002/humu.21009
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- Publication type:
- Article
Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis.
- Published in:
- Human Mutation, 2008, v. 29, n. 8, p. 1063, doi. 10.1002/humu.20764
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- Publication type:
- Article
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)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Publication type:
- 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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- Publication type:
- Article
Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories.
- Published in:
- Human Mutation, 1995, v. 6, n. 4, p. 326, doi. 10.1002/humu.1380060406
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- Publication type:
- Article
Myocardial infarction secondary to coronary embolus in a patient with left ventricular non-compaction cardiomyopathy: a case report.
- Published in:
- 2021
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- Publication type:
- Case Study
Haplotype analysis of the Δ2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent ‘founder’ HD haplotype.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 203
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- Publication type:
- Article
Direct, non-radioactive detection of mutations in Multiple Endocrine Neoplasia Type 2A families.
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- Human Molecular Genetics, 1994, v. 3, n. 4, p. 643
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- Publication type:
- Article
Somatic NF2 gene mutations in familial and non-familial vestibular schwannoma.
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- Human Molecular Genetics, 1994, v. 3, n. 2, p. 347
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- Publication type:
- Article
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.
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- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1713
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- Publication type:
- Article
Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.
- Published in:
- BMC Medical Genetics, 2006, v. 7, p. 81, doi. 10.1186/1471-2350-7-81
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- Publication type:
- Article