Complex gene rearrangements caused by serial replication slippage.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 125, doi. 10.1002/humu.20202
- By:
- Publication type:
- Article
Works matching IS 10597794 AND DT 2005 AND VI 26 AND IP 2
Results: 17
1
2
Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 84, doi. 10.1002/humu.20190
- By:
- Publication type:
- Article
3
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 165, doi. 10.1002/humu.9355
- By:
- Publication type:
- Article
4
3-Methylcrotonyl-CoA carboxylase deficiency: Mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 164, doi. 10.1002/humu.9352
- By:
- Publication type:
- Article
5
The 2004 Human Genome Variation Society scientific meeting.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 160, doi. 10.1002/humu.20194
- By:
- Publication type:
- Article
6
LOVD: Easy creation of a locus-specific sequence variation database using an 'LSDB-in-a-box' approach.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 63, doi. 10.1002/humu.20201
- By:
- Publication type:
- Article
7
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 113, doi. 10.1002/humu.20193
- By:
- Publication type:
- Article
8
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator<sup>TM</sup> software.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 165, doi. 10.1002/humu.9354
- By:
- Publication type:
- Article
9
Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 Mutation.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 94, doi. 10.1002/humu.20192
- By:
- Publication type:
- Article
10
A rapid microarray based whole genome analysis for detection of uniparental disomy.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 153, doi. 10.1002/humu.20198
- By:
- Publication type:
- Article
11
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 164, doi. 10.1002/humu.9353
- By:
- Publication type:
- Article
12
Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 145, doi. 10.1002/humu.20199
- By:
- Publication type:
- Article
13
Hereditary angioedema: The mutation spectrum of SERPING1/C1NH in a large Spanish cohort.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 135, doi. 10.1002/humu.20197
- By:
- Publication type:
- Article
14
Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 104, doi. 10.1002/humu.20191
- By:
- Publication type:
- Article
15
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 119, doi. 10.1002/humu.20200
- By:
- Publication type:
- Article
16
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 78, doi. 10.1002/humu.20195
- By:
- Publication type:
- Article
17
dbQSNP: A database of SNPs in human promoter regions with allele frequency information determined by single-strand conformation polymorphism-based methods.
- Published in:
- 2005
- By:
- Publication type:
- Other