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Mutation detection

p16 Mutation Spectrum in the Premalignant Condition Barrett's Esophagus

Thomas G. Paulson, Patricia C. Galipeau, [ ... ], Brian J. Reid

Detecting Clusters of Mutations

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

Exon Expression Arrays as a Tool to Identify New Cancer Genes

Mieke Schutte, Fons Elstrodt, [ ... ], Pim J. French

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, [ ... ], Zi-Chun Hua

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

Sigrun Roeber, Eva-Maria Grasbon-Frodl, [ ... ], Hans A. Kretzschmar

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

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

Gaik Theng Toh, Peter Kang, [ ... ], Soo-Hwang Teo

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

Nadia Tinto, Adriana Zagari, [ ... ], Lucia Sacchetti

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

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

John R. Bankston, Minerva Yue, [ ... ], Robert S. Kass

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

Aijaz A. Wani, Sajad H. Ahanger, [ ... ], Yogesh S. Shouche

High Throughput Genetic Analysis of Congenital Myasthenic Syndromes Using Resequencing Microarrays

Lisa Denning, Jennifer A. Anderson, [ ... ], Ricardo A. Maselli

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

Michael S. Akhras, Magnus Unemo, [ ... ], Nader Pourmand

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