Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 3
Results: 32
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients (Communicated by Pui-Yun Kwok).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 222
- By:
- Publication type:
- Article
ATM gene alterations in childhood acute lymphoblastic leukemias.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
PTEN: One Gene, Many Syndromes.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 183, doi. 10.1002/humu.10257
- By:
- Publication type:
- Article
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #646 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175
- By:
- Publication type:
- Article
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany (Communicated by Dvorah Abeliovich ) Online Citation: Human Mutation, Mutation in Brief #645 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/645.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9174
- By:
- Publication type:
- Article
CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs (Communicated by Garry R. Cutting) Online Citation: Human Mutation, Mutation in Brief #644 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/644.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9173
- By:
- Publication type:
- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (Communicated by Robert Desnick) Online Citation: Human Mutation, Mutation in Brief #643 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258
- By:
- Publication type:
- Article
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques (Communicated by Daniel Schorderet) Online Citation: Human Mutation, Mutation in Brief #642 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171
- By:
- Publication type:
- Article
Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #641 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/641.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9170
- By:
- Publication type:
- Article
Association analysis of novel TBX21 variants with asthma phenotypes (Communicated by Michael Dean) Online Citation: Human Mutation, Mutation in Brief #640 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/640.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9169
- By:
- Publication type:
- Article
Negligible validation rate for public domain stop-codon SNPs (Communicated by Richard G. H. Cotton) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs (Communicated by Linda Tyfield).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends (Communicated by Linda Tyfield).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253
- By:
- Publication type:
- Article
Trimethylaminuria and a human FMO3 mutation database (Communicated by Richard G.H. Cotton).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 209, doi. 10.1002/humu.10252
- By:
- Publication type:
- Article
Genotyping African haplotypes in ATM using a co-spotted single-base extension assay (Communicated by Ann-Christine Syvanen).
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 214, doi. 10.1002/humu.10250
- By:
- Publication type:
- Article
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (Communicated by Mark H. Paalman) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html)
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
- By:
- Publication type:
- Article
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defectCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #646 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/646.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9175
- By:
- Publication type:
- Article
Twenty?three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern GermanyCommunicated by Dvorah Abeliovich Online Citation:Human Mutation, Mutation in Brief #645 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/645.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9174
- By:
- Publication type:
- Article
CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programsCommunicated by Garry R. CuttingOnline Citation:Human Mutation, Mutation in Brief #644 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/644.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 259, doi. 10.1002/humu.9173
- By:
- Publication type:
- Article
Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous femaleCommunicated by Robert DesnickOnline Citation: Human Mutation, Mutation in Brief #643 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/643.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258
- By:
- Publication type:
- Article
Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniquesCommunicated by Daniel SchorderetOnline Citation: Human Mutation, Mutation in Brief #642 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/642.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 258, doi. 10.1002/humu.9171
- By:
- Publication type:
- Article
Identification of novel variants in transforming growth factor?beta 1 (TGFB1) gene and association analysis with bone mineral densityCommunicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #641 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/641.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9170
- By:
- Publication type:
- Article
Association analysis of novel TBX21 variants with asthma phenotypesCommunicated by Michael DeanOnline Citation: Human Mutation, Mutation in Brief #640 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/640.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 257, doi. 10.1002/humu.9169
- By:
- Publication type:
- Article
Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Standardizing mutation nomenclature: Why bother?
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 181, doi. 10.1002/humu.10262
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination?associated motifsCommunicated by Linda Tyfield.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 229, doi. 10.1002/humu.10254
- By:
- Publication type:
- Article
Negligible validation rate for public domain stop?codon SNPsCommunicated by Richard G. H. CottonThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 252, doi. 10.1002/humu.10256
- By:
- Publication type:
- Article
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA endsCommunicated by Linda Tyfield.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 245, doi. 10.1002/humu.10253
- By:
- Publication type:
- Article
Trimethylaminuria and a human FMO3 mutation databaseCommunicated by Richard G.H. Cotton.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 209, doi. 10.1002/humu.10252
- By:
- Publication type:
- Article
Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patientsCommunicated by Pui?Yun Kwok.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 222
- By:
- Publication type:
- Article
Genotyping African haplotypes in ATM using a co?spotted single?base extension assayCommunicated by Ann?Christine Syvanen.
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 214, doi. 10.1002/humu.10250
- By:
- Publication type:
- Article
Update of the UMD?FBN1 mutation database and creation of an FBN1 polymorphism databaseCommunicated by Mark H. PaalmanThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/v22.html
- Published in:
- Human Mutation, 2003, v. 22, n. 3, p. 199
- By:
- Publication type:
- Article