Works matching IS 00099163 AND DT 2003 AND VI 64 AND IP 6
Results: 14
Erratum.
- Published in:
- 2003
- Publication type:
- Correction Notice
Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Autosomal dominant velopharyngeal insufficiency: father-to-son transmission confirmed.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Ring Y chromosome in an azoospermic male with short stature: additional evidence for a distinct ring Y syndrome in non-mosaic patients?
- Published in:
- 2003
- By:
- Publication type:
- Letter
Elevated frequencies of the 35delG allele of the connexin 26 gene in Corsica, France.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 509, doi. 10.1046/j.1399-0004.2003.00189.x
- By:
- Publication type:
- Article
Frequency of three BRCA1 gene founder mutations in breast/ovarian cancer families from the Pomerania--Kujawy region of Poland.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 502, doi. 10.1046/j.1399-0004.2003.00178.x
- By:
- Publication type:
- Article
Chromosome 2 deletion encompassing the MAP2 gene in a patient with autism and Rett-like features.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 497, doi. 10.1046/j.1399-0004.2003.00176.x
- By:
- Publication type:
- Article
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin-Lowry syndrome.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 491
- By:
- Publication type:
- Article
Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 485, doi. 10.1046/j.1399-0004.2003.00162.x
- By:
- Publication type:
- Article
Hot Spots.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 473
- By:
- Publication type:
- Article
Notch signaling in development and disease.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 461, doi. 10.1046/j.1399-0004.2003.00194.x
- By:
- Publication type:
- Article
Involvement of gene--diet/drug interaction in DNA methylation and its contribution to complex diseases: from cancer to schizophrenia.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 451, doi. 10.1046/j.1399-0004.2003.00190.x
- By:
- Publication type:
- Article
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
- Published in:
- Clinical Genetics, 2003, v. 64, n. 6, p. 479, doi. 10.1046/j.1399-0004.2003.00179.x
- By:
- Publication type:
- Article