Works matching IS 00099163 AND DT 2006 AND VI 69 AND IP 3
Results: 18
MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 228, doi. 10.1111/j.1399-0004.2006.00567.x
- By:
- Publication type:
- Article
Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 234, doi. 10.1111/j.1399-0004.2006.00569.x
- By:
- Publication type:
- Article
A questionnaire study for 128 patients with Gaucher disease.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 209, doi. 10.1111/j.1399-0004.2006.00573.x
- By:
- Publication type:
- Article
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 239, doi. 10.1111/j.1399-0004.2006.00574.x
- By:
- Publication type:
- Article
Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 246, doi. 10.1111/j.1399-0004.2006.00576.x
- By:
- Publication type:
- Article
A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 254, doi. 10.1111/j.1399-0004.2006.00577.x
- By:
- Publication type:
- Article
Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 263, doi. 10.1111/j.1399-0004.2006.00578.x
- By:
- Publication type:
- Article
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Genetic knowledge and moral responsibility: ambiguity at the interface of genetic research and clinical practice.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 199, doi. 10.1111/j.1399-0004.2006.00581.x
- By:
- Publication type:
- Article
Pregnancy-associated plasma protein A, free human chorionic gonadotrophin and nuchal translucency as predictors of miscarriage.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Transglutaminase 5 mutations result in Acral Peeling Skin Syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
The first characterization of homozygous HOX gene mutation in humans.
- Published in:
- 2006
- By:
- Publication type:
- Other
A break near SLITRK1: A breakthrough in Tourette syndrome.
- Published in:
- 2006
- By:
- Publication type:
- Other
A novel homozygous MMP2 mutation in a family with Winchester syndrome.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 271, doi. 10.1111/j.1399-0004.2006.00584.x
- By:
- Publication type:
- Article
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 277, doi. 10.1111/j.1399-0004.2006.00585.x
- By:
- Publication type:
- Article
HMLH1 and HMSH2 germline mutations in Greek families with hereditary non-polyposis colorectal cancer.
- Published in:
- 2006
- Publication type:
- Letter
Comparative transcriptome maps: a new approach to the diagnosis of colorectal carcinoma patients using cDNA microarrays.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 3, p. 218, doi. 10.1111/j.1399-0004.2006.00588.x
- By:
- Publication type:
- Article