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Mutation detection

p16 Mutation Spectrum in the Premalignant Condition Barrett's Esophagus

Thomas G. Paulson, Patricia C. Galipeau, Lianjun Xu, Heather D. Kissel, Xiaohong Li, Patricia L. Blount, Carissa A. Sanchez, Robert D. Odze, Brian J. Reid

published 27 Nov 2008

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Detecting Clusters of Mutations

Tong Zhou, Peter J. Enyeart, Claus O. Wilke

published 19 Nov 2008

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Exon Expression Arrays as a Tool to Identify New Cancer Genes

Mieke Schutte, Fons Elstrodt, Linda B. C. Bralten, Jord H. A. Nagel, Elza Duijm, Antoinette Hollestelle, Maartje J. Vuerhard, Marijke Wasielewski, Justine K. Peeters, Peter van der Spek, Peter A. Sillevis Smitt, Pim J. French

published 20 Aug 2008

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Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

Shufeng Li, Jiahuang Li, Jian Cheng, Bingrong Zhou, Xin Tong, Xiangbai Dong, Zixing Wang, Qingang Hu, Meng Chen, Zi-Chun Hua

published 11 Jun 2008

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Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Sigrun Roeber, Eva-Maria Grasbon-Frodl, Otto Windl, Bjarne Krebs, Wei Xiang, Caren Vollmert, Thomas Illig, Andreas Schröter, Thomas Arzberger, Petra Weber, Inga Zerr, Hans A. Kretzschmar

published 14 May 2008

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High Frequency of Copy Number Variations and Sequence Variants at CYP21A2 Locus: Implication for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Silvia Parajes, Celsa Quinteiro, Fernando Domínguez, Lourdes Loidi

published 14 May 2008

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BRCA1 and BRCA2 Germline Mutations in Malaysian Women with Early-Onset Breast Cancer without a Family History

Gaik Theng Toh, Peter Kang, Sharlene S. W. Lee, Daphne Shin-Chi Lee, Sheau Yee Lee, Suhaida Selamat, Nur Aishah Mohd Taib, Sook-Yee Yoon, Cheng Har Yip, Soo-Hwang Teo

published 23 Apr 2008

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Glucokinase Gene Mutations: Structural and Genotype-Phenotype Analyses in MODY Children from South Italy

Nadia Tinto, Adriana Zagari, Marina Capuano, Alfonso De Simone, Valentina Capobianco, Gerardo Daniele, Michela Giugliano, Raffaella Spadaro, Adriana Franzese, Lucia Sacchetti

published 02 Apr 2008

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Mutation Analysis of BRAF, MEK1 and MEK2 in 15 Ovarian Cancer Cell Lines: Implications for Therapy

Anne L. Estep, Chana Palmer, Frank McCormick, Katherine A. Rauen

published 05 Dec 2007

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A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response

John R. Bankston, Minerva Yue, Wendy Chung, Meghan Spyres, Robert H. Pass, Eric Silver, Kevin J. Sampson, Robert S. Kass

published 05 Dec 2007

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Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants

Aijaz A. Wani, Sajad H. Ahanger, Sharmila A. Bapat, Ashraf Y. Rangrez, Nitin Hingankar, C. G. Suresh, Shama Barnabas, Milind S. Patole, Yogesh S. Shouche

published 26 Sep 2007

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High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, Ryan Davis, Jeffrey P. Gregg, Jennifer Kuzdenyi, Ricardo A. Maselli

published 19 Sep 2007

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Connector Inversion Probe Technology: A Powerful One-Primer Multiplex DNA Amplification System for Numerous Scientific Applications

Michael S. Akhras, Magnus Unemo, Sreedevi Thiyagarajan, Pål Nyrén, Ronald W. Davis, Andrew Z. Fire, Nader Pourmand

published 19 Sep 2007

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