Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 1
Results: 40
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226
- By:
- Publication type:
- Article
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1 (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224
- By:
- Publication type:
- Article
Determination of SMN1 and SMN2 copy number using TaqMan technology (Communicated by Graham Taylor).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221
- By:
- Publication type:
- Article
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL geneCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #630 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159
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- Publication type:
- Article
Denaturing HPLC analysis of DNA deletions and insertionsCommunicated by Peter Oefner.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 98, doi. 10.1002/humu.10234
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- Publication type:
- Article
Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #630 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/630.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9159
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- Publication type:
- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
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- Publication type:
- Article
Prion susceptibility and protective alleles exhibit marked geographic differences (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #628 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157
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- Publication type:
- Article
The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #627 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/627.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9156
- By:
- Publication type:
- Article
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia (Online Citation: Human Mutation, Mutation in Brief #626 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdf) Communicated by Mark H. Paalman)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9155
- By:
- Publication type:
- Article
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi-quantitative multiplex PCR method (Communicated by Arupa Ganguly) Online Citation: Human Mutation, Mutation in Brief #625 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154
- By:
- Publication type:
- Article
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S (Communicated by Jan Kraus) Online Citation: Human Mutation, Mutation in Brief #624 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153
- By:
- Publication type:
- Article
Epigenetic detection of human chromosome 14 uniparental disomy (Communicated by Haig H. Kazazian).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 92, doi. 10.1002/humu.10237
- By:
- Publication type:
- Article
The molecular basis of glutamate formiminotransferase deficiency (Communicated by R. Garry Cutting).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236
- By:
- Publication type:
- Article
A phylogenetic approach to assessing the significance of missense mutations in disease genes (Communicated by David N. Cooper).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 51
- By:
- Publication type:
- Article
Denaturing HPLC analysis of DNA deletions and insertions (Communicated by Peter Oefner).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 98, doi. 10.1002/humu.10234
- By:
- Publication type:
- Article
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B (Communicated by Iain McIntosh).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 1, doi. 10.1002/humu.10233
- By:
- Publication type:
- Article
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rate (Communicated by Jacques S. Beckmann).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232
- By:
- Publication type:
- Article
Genetic diversity of the alpha-1-antitrypsin gene in Africans identified using a novel genotyping assay (Communicated by Michael Dean).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 59, doi. 10.1002/humu.10231
- By:
- Publication type:
- Article
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotypephenotype correlation in 38 classical citrullinemia patients (Communicated by Nobuyoshi Shimizu).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 24, doi. 10.1002/humu.10230
- By:
- Publication type:
- Article
Enhanced allele-specific PCR discrimination in SNP genotyping using 3' locked nucleic acid (LNA) primers (Communicated by Ulf Landegren).
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 79, doi. 10.1002/humu.10228
- By:
- Publication type:
- Article
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (Communicated by Elizabeth F. Neufeld) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227
- By:
- Publication type:
- Article
One gene, two phenotypes: ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type BCommunicated by Iain McIntosh.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 1, doi. 10.1002/humu.10233
- By:
- Publication type:
- Article
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype–phenotype correlation in 38 classical citrullinemia patientsCommunicated by Nobuyoshi Shimizu.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 24, doi. 10.1002/humu.10230
- By:
- Publication type:
- Article
Independent mutational events are rare in the ATM gene: Haplotype prescreening enhances mutation detection rateCommunicated by Jacques S. Beckmann.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 43, doi. 10.1002/humu.10232
- By:
- Publication type:
- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #629 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
- By:
- Publication type:
- Article
Prion susceptibility and protective alleles exhibit marked geographic differencesCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #628 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/628.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9157
- By:
- Publication type:
- Article
The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relativesCommunicated by Mark H. PaalmanOnline Citation:Human Mutation, Mutation in Brief #627 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/627.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9156
- By:
- Publication type:
- Article
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasiaOnline Citation: Human Mutation, Mutation in Brief #626 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/626.pdfCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 104, doi. 10.1002/humu.9155
- By:
- Publication type:
- Article
Screening for large rearrangements of the BRCA1 gene in German breast or ovarian cancer families using semi‐quantitative multiplex PCR methodCommunicated by Arupa GangulyOnline Citation: Human Mutation, Mutation in Brief #625 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/625.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9154
- By:
- Publication type:
- Article
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307SCommunicated by Jan KrausOnline Citation: Human Mutation, Mutation in Brief #624 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/624.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 103, doi. 10.1002/humu.9153
- By:
- Publication type:
- Article
Epigenetic detection of human chromosome 14 uniparental disomyCommunicated by Haig H. Kazazian.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 92, doi. 10.1002/humu.10237
- By:
- Publication type:
- Article
The molecular basis of glutamate formiminotransferase deficiencyCommunicated by R. Garry Cutting.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 67, doi. 10.1002/humu.10236
- By:
- Publication type:
- Article
A phylogenetic approach to assessing the significance of missense mutations in disease genesCommunicated by David N. Cooper.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 51
- By:
- Publication type:
- Article
Genetic diversity of the alpha‐1‐antitrypsin gene in Africans identified using a novel genotyping assayCommunicated by Michael Dean.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 59, doi. 10.1002/humu.10231
- By:
- Publication type:
- Article
Enhanced allele‐specific PCR discrimination in SNP genotyping using 3′ locked nucleic acid (LNA) primersCommunicated by Ulf Landegren.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 79, doi. 10.1002/humu.10228
- By:
- Publication type:
- Article
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosisCommunicated by Elizabeth F. NeufeldThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/jpages/1059-7794/suppmat/2003/22/v22.35.html
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 35, doi. 10.1002/humu.10227
- By:
- Publication type:
- Article
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl‐CoA dehydrogenation deficiencyCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 12, doi. 10.1002/humu.10226
- By:
- Publication type:
- Article
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1Communicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 86, doi. 10.1002/humu.10224
- By:
- Publication type:
- Article
Determination of SMN1 and SMN2 copy number using TaqMan™ technologyCommunicated by Graham Taylor.
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 74, doi. 10.1002/humu.10221
- By:
- Publication type:
- Article