Publications by authors named "Eric Seboun"

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Mutations in DHDPSL are responsible for primary hyperoxaluria type III.
Ruth Belostotsky, Eric Seboun, Gregory H Idelson, Dawn S Milliner, Rachel Becker-Cohen

Am J Hum Genet· September 2010

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Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Jan Senderek, Sean M Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Eric Seboun

Am J Hum Genet· April 2009

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Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM).
Sean M Garvey, Jan Senderek, Jacques S Beckmann, Eric Seboun, Charles E Jackson

Ann Hum Genet· May 2006

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Amish brittle hair syndrome gene maps to 7p14.1.
Eric Seboun, Arnaud Lemainque, Charles E Jackson

Am J Med Genet A· April 2005

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Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
Kazuhiko Nakabayashi, Daniela Amann, Yan Ren, Ulpu Saarialho-Kere, Nili Avidan, Eric Seboun

Am J Hum Genet· March 2005

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