Works matching IS 03406717 AND DT 2010 AND VI 128 AND IP 1
Results: 12
Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 39, doi. 10.1007/s00439-010-0821-8
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- Publication type:
- Article
High-density SNP genotyping detects homogeneity of Spanish and French Basques, and confirms their genomic distinctiveness from other European populations.
- Published in:
- 2010
- By:
- Publication type:
- Report
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 51, doi. 10.1007/s00439-010-0823-6
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- Publication type:
- Article
The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 ( RIN2).
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 79, doi. 10.1007/s00439-010-0829-0
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- Publication type:
- Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Obituary of Leena Peltonen-Palotie.
- Published in:
- 2010
- By:
- Publication type:
- Obituary
Copy number variants at Williams–Beuren syndrome 7q11.23 region.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 3, doi. 10.1007/s00439-010-0827-2
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- Publication type:
- Article
Christopher Baum: Genetic modification of haematopoietic stem cells: methods and protocols.
- Published in:
- 2010
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- Publication type:
- Book Review
Dena S. Davis: Genetic Dilemmas: Reproductive Technology, Parental Choices, and Children’s Futures 2/e.
- Published in:
- 2010
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- Publication type:
- Book Review
Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 27, doi. 10.1007/s00439-010-0817-4
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- Publication type:
- Article
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 61, doi. 10.1007/s00439-010-0825-4
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- Publication type:
- Article
The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.
- Published in:
- Human Genetics, 2010, v. 128, n. 1, p. 89, doi. 10.1007/s00439-010-0828-1
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- Publication type:
- Article