Works matching IS 10597794 AND DT 2007 AND VI 28 AND IP 5
Results: 22
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 459, doi. 10.1002/humu.20465
- By:
- Publication type:
- Article
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 495, doi. 10.1002/humu.20476
- By:
- Publication type:
- Article
Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 511, doi. 10.1002/humu.20479
- By:
- Publication type:
- Article
Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9493
- By:
- Publication type:
- Article
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9486
- By:
- Publication type:
- Article
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 469, doi. 10.1002/humu.20471
- By:
- Publication type:
- Article
Extensive gene conversion at the PMS2 DNA mismatch repair locus.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 424, doi. 10.1002/humu.20457
- By:
- Publication type:
- Article
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 417, doi. 10.1002/humu.20469
- By:
- Publication type:
- Article
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 523, doi. 10.1002/humu.9489
- By:
- Publication type:
- Article
Novel mutations in FRMD7 in X-linked congenital nystagmus.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9492
- By:
- Publication type:
- Article
Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 477, doi. 10.1002/humu.20470
- By:
- Publication type:
- Article
Patterns of variation in DNA segments upstream of transcription start sites.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 441, doi. 10.1002/humu.20463
- By:
- Publication type:
- Article
The 2006 Human Genome Variation Society scientific meeting.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 517, doi. 10.1002/humu.20489
- By:
- Publication type:
- Article
Mutational analysis of CACNA1G in idiopathic generalized epilepsy.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9491
- By:
- Publication type:
- Article
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 523, doi. 10.1002/humu.9488
- By:
- Publication type:
- Article
Genetic variants in MGMT and risk of lung cancer in Southeastern Chinese: a haplotype-based analysis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 431, doi. 10.1002/humu.20462
- By:
- Publication type:
- Article
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487
- By:
- Publication type:
- Article
CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 451, doi. 10.1002/humu.20466
- By:
- Publication type:
- Article
Impact of the Alcohol-Dehydrogenase ( ADH) 1C and ADH1B polymorphisms on drinking behavior in nonalcoholic Japanese.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 506, doi. 10.1002/humu.20477
- By:
- Publication type:
- Article
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9490
- By:
- Publication type:
- Article
Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 526, doi. 10.1002/humu.9494
- By:
- Publication type:
- Article
Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 486, doi. 10.1002/humu.20473
- By:
- Publication type:
- Article