MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 671, doi. 10.1007/s10038-006-0006-4
- Publication type:
- Article
Works matching IS 14345161 AND DT 2006 AND VI 51 AND IP 8
Results: 15
1
2
The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 652, doi. 10.1007/s10038-006-0004-6
- Publication type:
- Article
3
Protan color vision deficiency with a unique order of green-red as the first two genes of a visual pigment array.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 686, doi. 10.1007/s10038-006-0008-2
- Publication type:
- Article
4
An association between asthma and TNF-308G/A polymorphism: meta-analysis.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 677, doi. 10.1007/s10038-006-0007-3
- Publication type:
- Article
5
Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 645, doi. 10.1007/s10038-006-0001-9
- Publication type:
- Article
6
Four mutations of the spastin gene in Japanese families with spastic paraplegia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 711, doi. 10.1007/s10038-006-0412-7
- By:
- Publication type:
- Article
7
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 706, doi. 10.1007/s10038-006-0015-3
- By:
- Publication type:
- Article
8
Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 695, doi. 10.1007/s10038-006-0009-1
- By:
- Publication type:
- Article
9
Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 737, doi. 10.1007/s10038-006-0014-4
- By:
- Publication type:
- Article
10
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 721, doi. 10.1007/s10038-006-0010-8
- By:
- Publication type:
- Article
11
Cockayne syndrome type A: novel mutations in eight typical patients.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 701, doi. 10.1007/s10038-006-0011-7
- By:
- Publication type:
- Article
12
Is autosomal recessive deafness associated with oculocutaneous albinism a “coincidence syndrome”?
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 716, doi. 10.1007/s10038-006-0003-7
- By:
- Publication type:
- Article
13
Follicle-stimulating hormone receptor gene polymorphism and ovarian responses to controlled ovarian hyperstimulation for IVF-ET.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 665, doi. 10.1007/s10038-006-0005-5
- By:
- Publication type:
- Article
14
A novel heterozygous mutation in the Indian hedgehog gene ( IHH) is associated with brachydactyly type A1 in a Chinese family.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 727, doi. 10.1007/s10038-006-0012-6
- By:
- Publication type:
- Article
15
Characterization of a novel B(A) allele with BBBA type at the ABO blood group.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 8, p. 732, doi. 10.1007/s10038-006-0013-5
- By:
- Publication type:
- Article