Works matching IS 10184813 AND DT 2007 AND VI 15 AND IP 10
Results: 16
Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1079, doi. 10.1038/sj.ejhg.5201828
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- Publication type:
- Article
Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1034, doi. 10.1038/sj.ejhg.5201871
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- Publication type:
- Article
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1012, doi. 10.1038/sj.ejhg.5201874
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- Publication type:
- Article
Tag SNP selection for candidate gene association studies using HapMap and gene resequencing data.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1063, doi. 10.1038/sj.ejhg.5201875
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- Publication type:
- Article
Enrichment of HapMap recombination hotspot predictions around human nervous system genes: evidence for positive selection ?
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1071, doi. 10.1038/sj.ejhg.5201876
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- Publication type:
- Article
Partial duplications of the ATRX gene cause the ATR-X syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1094, doi. 10.1038/sj.ejhg.5201878
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- Publication type:
- Article
Association of PTPN22 single nucleotide polymorphism with rheumatoid arthritis but not with allergic asthma.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1043, doi. 10.1038/sj.ejhg.5201879
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- Publication type:
- Article
3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism.
- Published in:
- 2007
- By:
- Publication type:
- Proceeding
Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1029, doi. 10.1038/sj.ejhg.5201881
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- Publication type:
- Article
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1023, doi. 10.1038/sj.ejhg.5201882
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- Publication type:
- Article
Process and outcome in communication of genetic information within families: a systematic review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 999, doi. 10.1038/sj.ejhg.5201883
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- Publication type:
- Article
Polymorphism of XRCC1 predicts overall survival of gastric cancer patients receiving oxaliplatin-based chemotherapy in Chinese population.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1049, doi. 10.1038/sj.ejhg.5201884
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- Publication type:
- Article
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1054, doi. 10.1038/sj.ejhg.5201885
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- Publication type:
- Article
Evidence of a segregation ratio distortion of SMN1 alleles in spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1090, doi. 10.1038/sj.ejhg.5201886
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- Publication type:
- Article
Patient Information: Patient information for genetic testing.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 995, doi. 10.1038/sj.ejhg.5201893
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- Publication type:
- Article
Chromosomal Microdeletions and Genes' Functions: A cluster of chromosomal microdeletions and the deleted genes' functions.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 997, doi. 10.1038/sj.ejhg.5201894
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- Publication type:
- Article