Works matching IS 03406717 AND DT 2005 AND VI 117 AND IP 2/3
Results: 28
A newly identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 143, doi. 10.1007/s00439-005-1280-5
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- Publication type:
- Article
Evolution versus constitution: differences in chromosomal inversion.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 213, doi. 10.1007/s00439-005-1294-z
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- Publication type:
- Article
Eric Lander, David Page, Aravinda Chakravarti (eds): Annual review of genomics and human genetics, volume 5. Annual Reviews, Palo Alto, 2004 (ISBN 0-8243-3705-0), hardcover.
- Published in:
- 2005
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- Publication type:
- Book Review
Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 119, doi. 10.1007/s00439-005-1297-9
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- Publication type:
- Article
SNPs in the neural cell adhesion molecule 1 gene ( NCAM1) may be associated with human neural tube defects.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 133, doi. 10.1007/s00439-005-1299-7
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- Publication type:
- Article
The importance of modelling heterogeneity in complex disease: application to NIMH Schizophrenia Genetics Initiative data.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 160, doi. 10.1007/s00439-005-1282-3
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- Publication type:
- Article
A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1–q22.3.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 154, doi. 10.1007/s00439-005-1284-1
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- Publication type:
- Article
Identifying nineteenth century genealogical links from genotypes.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 188, doi. 10.1007/s00439-005-1279-y
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- Publication type:
- Article
Genetic analysis of adiponectin and obesity in Hispanic families: the IRAS Family Study.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 107, doi. 10.1007/s00439-005-1260-9
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- Publication type:
- Article
ATM haplotypes and associated mutations in Iranian patients with ataxia–telangiectasia: recurring homozygosity without a founder haplotype.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 101, doi. 10.1007/s00439-005-1254-7
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- Publication type:
- Article
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 275, doi. 10.1007/s00439-005-1288-x
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- Publication type:
- Article
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 177, doi. 10.1007/s00439-005-1298-8
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- Publication type:
- Article
The development of human genetics in Germany; a personal view.
- Published in:
- 2005
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- Publication type:
- Editorial
A century later Farabee has his mutation.
- Published in:
- 2005
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- Publication type:
- Letter
Gersen SL, Keagle MB (eds): The principles of clinical cytogenetics, 2nd edn. Humana Press, 2005 (ISBN 1-58829-300-9), hardcover, $145.00.
- Published in:
- 2005
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- Publication type:
- Book Review
Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 168, doi. 10.1007/s00439-005-1287-y
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- Publication type:
- Article
Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 207, doi. 10.1007/s00439-005-1301-4
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- Publication type:
- Article
A case of autism and uniparental disomy of chromosome 1.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 200, doi. 10.1007/s00439-005-1257-4
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- Publication type:
- Article
Decreased transcription of the human FCGR2B gene mediated by the -343 G/C promoter polymorphism and association with systemic lupus erythematosus.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 220, doi. 10.1007/s00439-005-1302-3
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- Publication type:
- Article
Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 228, doi. 10.1007/s00439-005-1303-2
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- Publication type:
- Article
The ratio of maternal to paternal UPD associated with recessive diseases.
- Published in:
- 2005
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- Publication type:
- Letter
Haplotype structure and phylogenetic shadowing of a hypervariable region in the CAPN10 gene.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 258, doi. 10.1007/s00439-005-1305-0
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- Publication type:
- Article
Fetal DNA detection in maternal plasma throughout gestation.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 243, doi. 10.1007/s00439-005-1330-z
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- Publication type:
- Article
Genetic dissection of gene expression observed in whole blood samples of elderly Danish twins.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 267, doi. 10.1007/s00439-005-1308-x
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- Publication type:
- Article
Evidence for a novel glaucoma locus at chromosome 3p21-22.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 249, doi. 10.1007/s00439-005-1296-x
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- Publication type:
- Article
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 238, doi. 10.1007/s00439-005-1275-2
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- Publication type:
- Article
Human Gene Mutations.
- Published in:
- 2005
- Publication type:
- Abstract
Acknowledgement to Referees 2004.
- Published in:
- Human Genetics, 2005, v. 117, n. 2/3, p. 303, doi. 10.1007/s00439-005-1316-x
- Publication type:
- Article