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Human Mutation|July 12, 2002
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndromeMarie-Louise Syrén, Silvana Tedeschi, Laila Cesareo, et al.Human Mutation|July 12, 2002
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patientsN Resta, A Stella, F C Susca, et al.Human Mutation|May 15, 2002
The IARC TP53 database: new online mutation analysis and recommendations to usersMagali Olivier, Ros Eeles, Monica Hollstein, et al.Human Mutation|May 15, 2002
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patientsSumiko Inoue, Kayoko Inoue, Maki Utsunomiya, et al.Human Mutation|May 15, 2002
Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohortJosef S Herzog, Erik M Jancis, Shidong Liao, et al.Human Mutation|May 20, 2003
Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphismsPaula J Bray, Richard G H CottonHuman Mutation|May 20, 2003
Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptideToshiyuki Fukao, Naoki Matsuo, Gai Xiu Zhang, et al.Human Mutation|May 20, 2003
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutationsUte Spiekerkoetter, Bin Sun, Zaza Khuchua, et al.Human Mutation|May 20, 2003
Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assayAlessia Colosimo, Valentina Guida, Luciana Rigoli, et al.Human Mutation|May 20, 2003
An ABCA4 genomic deletion in patients with Stargardt diseaseAlexander N Yatsenko, Noah F Shroyer, Richard A Lewis, et al.Pageof 574