检索结果 - William A. Paznekas
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<i>TCOF1</i> gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region 由 Carol A. Wise, Lydia C. Chiang, William A. Paznekas, Mridula Sharma, Maurice M. Musy, Jennifer Ashley, Michael Lovett, Ethylin Wang Jabs
出版 1997Artigo -
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<i>GJA1</i>mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype 由 William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin B. Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann Bodurtha, Ethylin Wang Jabs
出版 2009Revisão -
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Connexin 43 (GJA1) Mutations Cause the Pleiotropic Phenotype of Oculodentodigital Dysplasia 由 William A. Paznekas, Simeon A. Boyadjiev, Robert E. Shapiro, Otto Daniëls, Bernd Wollnik, Catherine E. Keegan, Jeffrey W. Innis, Mary Beth Dinulos, Cathy Christian, Mark C. Hannibal, Ethylin Wang Jabs
出版 2003Artigo -
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Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations 由 William A. Paznekas, Michael L. Cunningham, Timothy D. Howard, Bruce R. Korf, Mark Lipson, Art Grix, Murray Feingold, Rosalie Goldberg, Zvi Borochowitz, Kirk Aleck, John B. Mulliken, Mingfei Yin, Ethylin Wang Jabs
出版 1998Artigo -
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Receptor Tyrosine Kinases Activate Canonical WNT/β-Catenin Signaling via MAP Kinase/LRP6 Pathway and Direct β-Catenin Phosphorylation 由 Pavel Krejčı́, Anie Aklian, Markéta Kaucká, Eva Sevcikova, Jiřina Procházková, J. Mašek, Pavol Mikolka, Tereza Pospisilova, Tereza Spoustova, MaryAnn Weis, William A. Paznekas, Joshua H. Wolf, J. Silvio Gutkind, William R. Wilcox, Alois Kozubı́k, Ethylin Wang Jabs, Vı́tězslav Bryja, Lisa Salazar, Iva Veselá, Lukáš Bálek
出版 2012Artigo
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Biology
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Connexin
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Craniofacial
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Treacher Collins syndrome
Xenopus
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Arachidonic acid
Biochemistry
Cancer research
Casein kinase 2
Catenin
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Coding region
Cyclin-dependent kinase 2
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Endocrinology