Works matching IS 03406717 AND DT 2005 AND VI 116 AND IP 6
Results: 13
BRCA1 variants in a family study of African-American and Latina women.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 497, doi. 10.1007/s00439-004-1240-5
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- Publication type:
- Article
Homeodomain revisited: a lesson from disease-causing mutations.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 433, doi. 10.1007/s00439-004-1252-1
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- Publication type:
- Article
On the evolutionary mutation rate at Y-chromosome STRs: comments on paper by Di Giacomo et al. (2004).
- Published in:
- 2005
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- Publication type:
- Letter
Expression of mutantJAGGED1alleles in patients with Alagille syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 445, doi. 10.1007/s00439-005-1262-7
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- Publication type:
- Article
Rapid genotyping for most commonTGFBImutations with real-time polymerase chain reaction.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 518, doi. 10.1007/s00439-005-1269-0
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- Publication type:
- Article
A neutral variant involved in a complexCFTRallele contributes to a severe cystic fibrosis phenotype.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 454, doi. 10.1007/s00439-004-1246-z
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- Publication type:
- Article
Different population histories of the Mundari- and Mon-Khmer-speaking Austro-Asiatic tribes inferred from the mtDNA 9-bp deletion/insertion polymorphism in Indian populations.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 507, doi. 10.1007/s00439-005-1271-6
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- Publication type:
- Article
Matrix Gla protein and osteopontin genetic associations with coronary artery calcification and bone density: the CARDIA study.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 525, doi. 10.1007/s00439-005-1258-3
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- Publication type:
- Article
FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 476, doi. 10.1007/s00439-005-1268-1
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- Publication type:
- Article
Evidence for genetic anticipation in hereditary non-polyposis colorectal cancer.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 461, doi. 10.1007/s00439-005-1272-5
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- Publication type:
- Article
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 466, doi. 10.1007/s00439-005-1265-4
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- Publication type:
- Article
Microarray analysis of theDf1mouse model of the 22q11 deletion syndrome.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 486, doi. 10.1007/s00439-005-1274-3
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- Publication type:
- Article
Human Gene Mutations.
- Published in:
- Human Genetics, 2005, v. 116, n. 6, p. 533, doi. 10.1007/s00439-005-1283-2
- Publication type:
- Article