Suchergebnisse - Schwartz Charles

Absence of mutations in <it>NR2E1 </it>and <it>SNX3 </it>in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes von Simpson Elizabeth M, Schwartz Charles E, Slavotinek Anne, Morgan Chad T, Everman David B, Kumar Ravinesh A

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TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation von Holinski-Feder Elke, Abramowicz Marc J, Gecz Jozef, Kooy Frank, Christophe-Hobertus Christiane, Schwartz Charles, Christophe Daniel

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XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene von MacMillan Andrée, Macgregor David, Holinski-Feder Elke, Mangelsdorf Marie, Finnis Merran, Cason A Lauren, Stepp Monica L, Holden Jeanette JA, Gecz Jozef, Stevenson Roger E, Schwartz Charles E

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Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C von 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

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