Works matching IS 10597794 AND DT 2003 AND VI 22 AND IP 5
Results: 21
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #660 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/660.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 418
- By:
- Publication type:
- Article
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic(Communicated by Robert J. Desnick) Online Citation: Human Mutation, Mutation in Brief #666 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/666.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9195
- By:
- Publication type:
- Article
BUB1 infrequently mutated in human breast carcinomas(Communicated by Haig H. Kazazian, Jr.)Online Citation: Human Mutation, Mutation in Brief #665 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/665.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 420
- By:
- Publication type:
- Article
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #662 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/662.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 419, doi. 10.1002/humu.9191
- By:
- Publication type:
- Article
Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #664 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/664.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 420, doi. 10.1002/humu.9193
- By:
- Publication type:
- Article
Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #663 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/663.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 419, doi. 10.1002/humu.9192
- By:
- Publication type:
- Article
Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)(Online Citation: Human Mutation, Mutation in Brief #661 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/661.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 418, doi. 10.1002/humu.9190
- By:
- Publication type:
- Article
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations(Communicated by Ellen Solomon)Online Citation: Human Mutation, Mutation in Brief #659 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/659.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 417
- By:
- Publication type:
- Article
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #658 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/658.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 417, doi. 10.1002/humu.9187
- By:
- Publication type:
- Article
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #657 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/657.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 417, doi. 10.1002/humu.9186
- By:
- Publication type:
- Article
Genetic variation in a haplotype block spanning IDE influences Alzheimer disease(Communicated by Richard G. H. Cotton).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 363, doi. 10.1002/humu.10282
- By:
- Publication type:
- Article
The molecular basis of glutamate formiminotransferase deficiency.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy(Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 353, doi. 10.1002/humu.10277
- By:
- Publication type:
- Article
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg(Communicated by Jean-Louis Mandel).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 404, doi. 10.1002/humu.10276
- By:
- Publication type:
- Article
The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes(Communicated by Sergio Ottolenghi).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 412
- By:
- Publication type:
- Article
High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography(Communicated by Riccardo Fodde).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 388, doi. 10.1002/humu.10271
- By:
- Publication type:
- Article
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion(Communicated by David N. Cooper).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 378, doi. 10.1002/humu.10270
- By:
- Publication type:
- Article
Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe(Communicated by Richard G.H. Cotton).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 409, doi. 10.1002/humu.10269
- By:
- Publication type:
- Article
Molecular pathology of NEU1 gene in sialidosis(Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 343, doi. 10.1002/humu.10268
- By:
- Publication type:
- Article
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene(Communicated by Michael Dean).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 395, doi. 10.1002/humu.10263
- By:
- Publication type:
- Article
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot(Communicated by Arnold Munnich).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 372, doi. 10.1002/humu.10261
- By:
- Publication type:
- Article