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Human Mutation|August 26, 2003
Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral densityByung Lae Park, In Kwon Han, Ho Sa Lee, et al.
Human Mutation|August 26, 2003
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous femaleAdriana Rodríguez-Marí, M José Coll, Amparo Chabás
Human Mutation|August 26, 2003
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern GermanyPeter Meyer, Theda Voigtlaender, Claus R Bartram, et al.
Human Mutation|October 1, 2003
High throughput detection of microsatellite instability by denaturing high-performance liquid chromatographyKai-feng Pan, Wanguo Liu, You-Yong Lu, et al.
Human Mutation|October 1, 2003
DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-LundborgAndreas Weinhaeusel, Michael A Morris, Stylianos E Antonarakis, et al.
Human Mutation|February 20, 2004
Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCRIsabelle Coupry, Laurence Monnet, Azza Abd El Moneim Attia, et al.
Human Mutation|February 20, 2004
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissueJens Plaschke, Stefan Krüger, Wolfgang Dietmaier, et al.
Human Mutation|February 20, 2004
Molecular characterization of familial hypercholesterolemia in German and Greek patientsGeorge V Z Dedoussis, Janine Genschel, Bettina Bochow, et al.
Human Mutation|February 20, 2004
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemiaMaurilia Fiorini, Roberta Franceschini, Annarosa Soresina, et al.
Human Mutation|February 20, 2004
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotypeAntonio Pizzuti, Elisabetta Flex, Rita Mingarelli, et al.
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