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Human Mutation|March 6, 2003
TP53 in hematological cancer: low incidence of mutations with significant clinical relevanceShoshana Peller, Varda RotterHuman Mutation|March 6, 2003
TP53 mutations in familial breast cancer: functional aspectsMilena Gasco, Isik G Yulug, Tim CrookHuman Mutation|November 21, 2002
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 geneIvon Cuscó, María J Barceló, Montserrat Baiget, et al.Human Mutation|November 21, 2002
D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotypeMatthew J Parton, Wendy Broom, Peter M Andersen, et al.Human Mutation|January 17, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathyGail E Herman, Kevin Kopacz, Wei Zhao, et al.Human Mutation|January 17, 2002
250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1Dusanka Savić, Vidosava Rakocvic-Stojanovic, Dusan Keckarevic, et al.Human Mutation|January 17, 2002
Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of JapanMiwako Dakeishi, Takanobu Shioya, Yasuhiko Wada, et al.Human Mutation|January 17, 2002
A robust method for detecting CHK2/RAD53 mutations in genomic DNANayanta Sodha, Richard S Houlston, Richard Williams, et al.Human Mutation|January 17, 2002
BRCA1 and BRCA2 mutations in Russian familial breast cancerIrina V Tereschenko, Victoria M Basham, Bruce A J Ponder, et al.Pageof 583