Search Results - Scherer Stephen W

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    Human <it>PTCHD3 </it>nulls: rare copy number and sequence variants suggest a non-essential gene by Lionel Anath C, Moessner Rainald, Lee-Ng Ka Ki M, Kwan Benjamin YM, Ghahramani Seno Mohammad M, Marshall Christian R, Scherer Stephen W

    Published 2011
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    Adult siblings with homozygous <it>G6PC3</it> mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype by Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O

    Published 2012
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    Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C by Grafodatskaya Daria, Chung Barian HY, Butcher Darci T, Turinsky Andrei L, Goodman Sarah J, Choufani Sana, Chen Yi-An, Lou Youliang, Zhao Chunhua, Rajendram Rageen, Abidi Fatima E, Skinner Cindy, Stavropoulos James, Bondy Carolyn A, Hamilton Jill, Wodak Shoshana, Scherer Stephen W, Schwartz Charles E, Weksberg Rosanna

    Published 2013
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