Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 4
Results: 24
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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- Article
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 503, doi. 10.1038/sj.ejhg.5201325
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- Publication type:
- Article
No germline FH mutations in familial breast cancer patients.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 506, doi. 10.1038/sj.ejhg.5201326
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- Article
X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 452, doi. 10.1038/sj.ejhg.5201340
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- Publication type:
- Article
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 463, doi. 10.1038/sj.ejhg.5201341
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- Article
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 470, doi. 10.1038/sj.ejhg.5201343
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- Article
Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 513, doi. 10.1038/sj.ejhg.5201344
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- Article
Determination of the‘critical region’for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 475, doi. 10.1038/sj.ejhg.5201345
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- Publication type:
- Article
Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201347
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- Article
Confidentiality and serious harm in genetics.
- Published in:
- 2005
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- Publication type:
- Letter
Dilemma still not resolved.
- Published in:
- 2005
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- Publication type:
- Letter
Association of BDNF with restricting anorexia nervosa and minimum body mass index: a family-based association study of eight European populations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 428, doi. 10.1038/sj.ejhg.5201351
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- Publication type:
- Article
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 510, doi. 10.1038/sj.ejhg.5201352
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- Publication type:
- Article
Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 486, doi. 10.1038/sj.ejhg.5201353
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- Publication type:
- Article
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 435, doi. 10.1038/sj.ejhg.5201355
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- Publication type:
- Article
A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 491, doi. 10.1038/sj.ejhg.5201356
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- Publication type:
- Article
A common CTLA4 haplotype associated with coeliac disease.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 440, doi. 10.1038/sj.ejhg.5201357
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- Publication type:
- Article
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 409, doi. 10.1038/sj.ejhg.5201358
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- Publication type:
- Article
Research Network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 395, doi. 10.1038/sj.ejhg.5201359
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- Publication type:
- Article
Cascade testing in familial hypercholesterolaemia: how should family members be contacted?
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 401, doi. 10.1038/sj.ejhg.5201360
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- Publication type:
- Article
Defective protein glycosylation in patients with cutis laxa syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 414, doi. 10.1038/sj.ejhg.5201361
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- Publication type:
- Article
Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 445, doi. 10.1038/sj.ejhg.5201362
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- Publication type:
- Article
Cascade Screening: Whose information is it anyway?
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 397, doi. 10.1038/sj.ejhg.5201373
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- Publication type:
- Article
Cancer Genetics: Activated Notch takes center stage in T-cell leukemogenesis.
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- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 393, doi. 10.1038/sj.ejhg.5201380
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- Article