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Human Mutation|October 2, 2004
CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander, Jason Davis, Saskia D van der Velde-Visser, et al.Human Mutation|January 12, 2005
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) studyOrna Levran, Raffaella Diotti, Kanan Pujara, et al.Human Mutation|June 25, 2005
Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutationSilvia Capponcelli, Elena Pedrini, Maria Antonietta Cerone, et al.Human Mutation|June 25, 2005
Complex gene rearrangements caused by serial replication slippageJian-Min Chen, Nadia Chuzhanova, Peter D Stenson, et al.Human Mutation|June 23, 2005
The 2004 Human Genome Variation Society scientific meetingWilliam S Oetting, Tania TaboneHuman Mutation|April 16, 2005
BAC-based PCR fragment microarray: high-resolution detection of chromosomal deletion and duplication breakpointsHua Ren, Wendy Francis, Amber Boys, et al.Human Mutation|April 16, 2005
Ancient origin of the CAG expansion causing Huntington disease in a Spanish populationJavier García-Planells, Juan A Burguera, Pilar Solís, et al.Human Mutation|April 16, 2005
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening testYi-Ning Su, Chia-Cheng Hung, Hung Li, et al.Human Mutation|February 13, 2004
The mutation spectrum of the APC gene in FAP patients from southern Italy: detection of known and four novel mutationsMarina De Rosa, Maria I Scarano, Luigi Panariello, et al.Human Mutation|February 13, 2004
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophyOlivier Baris, Cécile Delettre, Patrizia Amati-Bonneau, et al.Pageof 583