Found: 40
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Detection of mitochondrial DNA mutations in gestational trophoblastic disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #631 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/631.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9160
- By:
- Publication type:
- Article
Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotyping (Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248
- By:
- Publication type:
- Article
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndrome (Communicated by Haig H. Kazazian).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242
- By:
- Publication type:
- Article
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle (Communicated by Arnold Munnich).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 175, doi. 10.1002/humu.10246
- By:
- Publication type:
- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening technique (Communicated by Mireille Claustres).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
- By:
- Publication type:
- Article
Polymorphisms in fatty acid-binding protein-3 (FABP3) putative association with type 2 diabetes mellitus (Communicated by Pui-Yan Kwok) Online Citation: Human Mutation, Mutation in Brief #639 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/639.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9168
- By:
- Publication type:
- Article
The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria (Communicated by Richard G.H. Cotton) Online Citation: Human Mutation, Mutation in Brief #638 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
- By:
- Publication type:
- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patients (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #637 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
- By:
- Publication type:
- Article
Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutation (Communicated by Jacques Beckmann) Online Citation: Human Mutation, Mutation in Brief #636 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/636.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9165
- By:
- Publication type:
- Article
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #635 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/635.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9164
- By:
- Publication type:
- Article
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #634 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163
- By:
- Publication type:
- Article
Founder mutation in the BRCA1 gene in Malay breast cancer patients from Singapore (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #633 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/633.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9162
- By:
- Publication type:
- Article
Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #632 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
- By:
- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene (Communicated by Graham R. Taylor).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
- By:
- Publication type:
- Article
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip (Communicated by Jan P. Kraus).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247
- By:
- Publication type:
- Article
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2 (Communicated by Jurgen Horst) The Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243
- By:
- Publication type:
- Article
Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals (Communicated by Mark H. Paalman) This article is a US government work, and, as such, is in the public domain of the United States of America)
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 121, doi. 10.1002/humu.10238
- By:
- Publication type:
- Article
Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer (Communicated by Richard G.H. Cotton).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 173, doi. 10.1002/humu.10244
- By:
- Publication type:
- Article
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (Communicated by Elizabeth Neufeld).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239
- By:
- Publication type:
- Article
Polymorphisms in fatty acid?binding protein?3 (FABP3) – putative association with type 2 diabetes mellitusCommunicated by Pui?Yan KwokOnline Citation: Human Mutation, Mutation in Brief #639 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/639.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9168
- By:
- Publication type:
- Article
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease (Communicated by Christine van Broeckhoven).
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
- By:
- Publication type:
- Article
Neurofibromatosis eurofibromatosis type 1 (NF1): Identification of eight unreported mutations in NF1 gene in Italian patientsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #637 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/637.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9166
- By:
- Publication type:
- Article
The 342?kb deletion in GJB6 is not present in patients with non?syndromic hearing loss from AustriaCommunicated by Richard G.H. CottonOnline Citation:Human Mutation, Mutation in Brief #638 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/638.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 180, doi. 10.1002/humu.9167
- By:
- Publication type:
- Article
Myocilin analysis by DHPLC in French POAG patients: Increased prevalence of Q368X mutationCommunicated by Jacques BeckmannOnline Citation:Human Mutation, Mutation in Brief #636 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/636.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 179, doi. 10.1002/humu.9165
- By:
- Publication type:
- Article
BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central ItalyCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #635 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/635.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9164
- By:
- Publication type:
- Article
Four novel mutations in APOB causing heterozygous and homozygous familial hypobetalipoproteinemiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #634 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/634.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9163
- By:
- Publication type:
- Article
Novel intronic polymorphisms in the RET proto?oncogene and their association with Hirschsprung diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #632 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/632.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9161
- By:
- Publication type:
- Article
Founder mutation in the BRCA1 gene in Malay breast cancer patients from SingaporeCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #633 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/633.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 178, doi. 10.1002/humu.9162
- By:
- Publication type:
- Article
Detection and assignment of TP53 mutations in tumor DNA using peptide mass signature genotypingCommunicated by Mark H. Paalman.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 158, doi. 10.1002/humu.10248
- By:
- Publication type:
- Article
Detection of mitochondrial DNA mutations in gestational trophoblastic diseaseCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #631 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/631.pdf.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 177, doi. 10.1002/humu.9160
- By:
- Publication type:
- Article
Detection of single nucleotide substitution by competitive allele?specific short oligonucleotide hybridization (CASSOH) with immunochromatographic stripCommunicated by Jan P. Kraus.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 166, doi. 10.1002/humu.10247
- By:
- Publication type:
- Article
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 geneCommunicated by Graham R. Taylor.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 136, doi. 10.1002/humu.10245
- By:
- Publication type:
- Article
Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/TwinkleCommunicated by Arnold Munnich.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 175, doi. 10.1002/humu.10246
- By:
- Publication type:
- Article
Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancerCommunicated by Richard G.H. Cotton.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 173, doi. 10.1002/humu.10244
- By:
- Publication type:
- Article
Deficiency of UDP?GlcNAc:Dolichol Phosphate N?Acetylglucosamine?1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjCommunicated by Elizabeth Neufeld.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239
- By:
- Publication type:
- Article
Mutations and polymorphisms in the human methyl CpG?binding protein MECP2Communicated by Jurgen HorstThe Supplementary Material referred to in this article can be found at http://www.interscience.wiley.com/humanmutation/suppmat/2003/v22.html.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 107, doi. 10.1002/humu.10243
- By:
- Publication type:
- Article
Gross rearrangements in the MECP2 gene in three patients with rett syndrome: Implications for routine diagnosis of Rett syndromeCommunicated by Haig H. Kazazian.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 116, doi. 10.1002/humu.10242
- By:
- Publication type:
- Article
Mutation screening of the N?myc downstream?regulated gene 1 (NDRG1) in patients with Charcot?Marie?Tooth DiseaseCommunicated by Christine van Broeckhoven.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 129, doi. 10.1002/humu.10240
- By:
- Publication type:
- Article
Evaluation of multiplex capillary heteroduplex analysis: A rapid and sensitive mutation screening techniqueCommunicated by Mireille Claustres.
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 151, doi. 10.1002/humu.10241
- By:
- Publication type:
- Article
Mutational analysis of the BRCA1?interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2?negative probands from breast?ovarian cancer families and among early?onset breast cancer cases and reference individualsCommunicated by Mark H. PaalmanThis article is a US government work, and, as such, is in the public domain of the United States of America
- Published in:
- Human Mutation, 2003, v. 22, n. 2, p. 121, doi. 10.1002/humu.10238
- By:
- Publication type:
- Article