Works matching IS 10184813 AND DT 2006 AND VI 14 AND IP 12
Results: 18
The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900).
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1233, doi. 10.1038/sj.ejhg.5201639
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- Publication type:
- Article
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1269, doi. 10.1038/sj.ejhg.5201691
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- Publication type:
- Article
Alcoholism: Study boosts evidence on linkage regions associated with alcoholism.
- Published in:
- 2006
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- Publication type:
- Editorial
Ulnar–mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1274, doi. 10.1038/sj.ejhg.5201696
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- Publication type:
- Article
An utter refutation of the ‘Fundamental Theorem of the HapMap’ by Terwilliger and Hiekkalinna.
- Published in:
- 2006
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- Publication type:
- Letter
An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1295, doi. 10.1038/sj.ejhg.5201698
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- Publication type:
- Article
Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1263, doi. 10.1038/sj.ejhg.5201699
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- Publication type:
- Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1240, doi. 10.1038/sj.ejhg.5201700
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- Publication type:
- Article
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1313, doi. 10.1038/sj.ejhg.5201702
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- Publication type:
- Article
Strong linkage on 2q33.3 to familial early-onset generalized osteoarthritis and a consideration of two positional candidate genes.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1280, doi. 10.1038/sj.ejhg.5201704
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- Publication type:
- Article
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1306, doi. 10.1038/sj.ejhg.5201706
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- Publication type:
- Article
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1317, doi. 10.1038/sj.ejhg.5201707
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- Publication type:
- Article
A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1248, doi. 10.1038/sj.ejhg.5201708
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- Publication type:
- Article
The scale and nature of Viking settlement in Ireland from Y-chromosome admixture analysis.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1288, doi. 10.1038/sj.ejhg.5201709
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- Publication type:
- Article
Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1255, doi. 10.1038/sj.ejhg.5201710
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- Publication type:
- Article
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
- Published in:
- 2006
- By:
- Publication type:
- Correction Notice
A test of homogeneity of Hardy–Weinberg disequilibrium across strata.
- Published in:
- 2006
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- Publication type:
- Correction Notice
The emergence of an ethical duty to disclose genetic research results: international perspectives.
- Published in:
- 2006
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- Publication type:
- Correction Notice