Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 11
Results: 14
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1074, doi. 10.1002/humu.20565
- By:
- Publication type:
- Article
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1133, doi. 10.1002/humu.20558
- By:
- Publication type:
- Article
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1084, doi. 10.1002/humu.20569
- By:
- Publication type:
- Article
Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1150, doi. 10.1002/humu.9511
- By:
- Publication type:
- Article
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
- By:
- Publication type:
- Article
Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1141, doi. 10.1002/humu.20575
- By:
- Publication type:
- Article
AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1150, doi. 10.1002/humu.9510
- By:
- Publication type:
- Article
Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1091, doi. 10.1002/humu.20570
- By:
- Publication type:
- Article
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1124, doi. 10.1002/humu.20581
- By:
- Publication type:
- Article
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1108, doi. 10.1002/humu.20574
- By:
- Publication type:
- Article
Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1065, doi. 10.1002/humu.20567
- By:
- Publication type:
- Article
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1047, doi. 10.1002/humu.20580
- By:
- Publication type:
- Article
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1114, doi. 10.1002/humu.20577
- By:
- Publication type:
- Article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572
- By:
- Publication type:
- Article