Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 1
Results: 21
MTHFR C677T and A1298C polymorphisms and mutated sequences occurring in cis.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
A Dictionary of Genetics (Book).
- Published in:
- 2003
- By:
- Publication type:
- Book Review
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 102, doi. 10.1038/sj.ejhg.5200908
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- Publication type:
- Article
A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 97, doi. 10.1038/sj.ejhg.5200926
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- Publication type:
- Article
Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 93, doi. 10.1038/sj.ejhg.5200927
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- Publication type:
- Article
Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 89, doi. 10.1038/sj.ejhg.5200907
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- Publication type:
- Article
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 85, doi. 10.1038/sj.ejhg.5200915
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- Publication type:
- Article
The CTLA4 region as a general autoimmunity factor: An extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 81, doi. 10.1038/sj.ejhg.5200903
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- Publication type:
- Article
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1--14q24.3 in large consanguineous kindred from Pakistan.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 77, doi. 10.1038/sj.ejhg.5200905
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- Publication type:
- Article
Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 69, doi. 10.1038/sj.ejhg.5200914
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- Publication type:
- Article
PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 64, doi. 10.1038/sj.ejhg.5200911
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- Publication type:
- Article
A new web-based data mining tool for the identification of candidate genes for human genetic disorders.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 57, doi. 10.1038/sj.ejhg.5200918
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- Publication type:
- Article
Familial Mediterranean fever is no longer a rare disease in Italy.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 50, doi. 10.1038/sj.ejhg.5200916
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- Publication type:
- Article
Global genetic variation at nine short tandem repeat loci and implications on forensic genetics.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 39, doi. 10.1038/sj.ejhg.5200902
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- Publication type:
- Article
Psychological distress in the 5-year period after predictive testing for Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 30, doi. 10.1038/sj.ejhg.5200913
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- Publication type:
- Article
Cystathionine β-synthase polymorphisms and hyperhomocysteinaemia: an association study.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 23, doi. 10.1038/sj.ejhg.5200899
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- Publication type:
- Article
Linkage of aggressive prostate cancer to chromosome 7q31-33 in German prostate cancer families.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 17, doi. 10.1038/sj.ejhg.5200898
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- Publication type:
- Article
Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 6, doi. 10.1038/sj.ejhg.5200897
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- Publication type:
- Article
Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200928
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- Publication type:
- Article
Discovery of old diseases: the molecular approach.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 3, doi. 10.1038/sj.ejhg.5200917
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- Publication type:
- Article
Genetic discrimination: Too few data.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 1, p. 1, doi. 10.1038/sj.ejhg.5200910
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- Publication type:
- Article