検索結果 - Ethylin Wang Jabs

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  1. 1
    Genetic basis of potential therapeutic strategies for craniosynostosis

    Genetic basis of potential therapeutic strategies for craniosynostosis 著者: Heather Melville, Yingli Wang, Peter J. Taub, Ethylin Wang Jabs

    出版事項 2010
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    Revisão
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  2. 2
    Characterization of an alpha 1—-3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene.

    Characterization of an alpha 1—-3-galactosyltransferase homologue on human chromosome 12 that is organized as a processed pseudogene. 著者: David H. Joziasse, J H Shaper, Ethylin Wang Jabs, Nancy L. Shaper

    出版事項 1991
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    Artigo
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  3. 3
    Parental origin of mutations in sporadic cases of Treacher Collins syndrome

    Parental origin of mutations in sporadic cases of Treacher Collins syndrome 著者: Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos‐Bueno

    出版事項 2003
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    Artigo
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  4. 4
    Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses

    Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses 著者: Yann Heuzé, G.H. Holmes, Inga Peter, Joan T. Richtsmeier, Ethylin Wang Jabs

    出版事項 2014
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    Artigo
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  5. 5
    The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization

    The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization 著者: Chulso Moon, Gregory M. Preston, C.A. Griffin, Ethylin Wang Jabs, Peter Agre

    出版事項 1993
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    Artigo
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  6. 6
    FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models

    FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models 著者: Neus Martínez‐Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T. Richtsmeier

    出版事項 2011
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    Artigo
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  7. 7
    Ten-year experience of more than 35,000 orofacial clefts in Africa

    Ten-year experience of more than 35,000 orofacial clefts in Africa 著者: Julia C Conway, Peter J. Taub, Rochelle Kling, Kurun Oberoi, John Doucette, Ethylin Wang Jabs

    出版事項 2015
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    Artigo
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  8. 8
    Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

    Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells 著者: Albert Lai, Dung-Nghi Le, William A. Paznekas, Wes D. Gifford, Ethylin Wang Jabs, Andrew Charles

    出版事項 2006
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    Artigo
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  9. 9
    Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public

    Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public 著者: Saskia C. Sanderson, Sabrina A. Suckiel, Micol Zweig, Erwin P. Böttinger, Ethylin Wang Jabs, Lynne D. Richardson

    出版事項 2015
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    Artigo
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  10. 10
    Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3

    Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3 著者: Ethylin Wang Jabs, Xiang Li, Cathleen A. Coss, Eugene W. Taylor, Deborah A. Meyers, James L. Weber

    出版事項 1991
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    Artigo
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  11. 11
    The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm

    The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm 著者: Rivka L. Glaser, Karl W. Broman, Rebecca L. Schulman, Brenda Eskenazi, Andrew J. Wyrobek, Ethylin Wang Jabs

    出版事項 2003
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    Artigo
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  12. 12
    Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

    Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia 著者: Junko Shibayama, William A. Paznekas, Akiko Seki, Steven M. Taffet, Ethylin Wang Jabs, Mario Delmar, Hassan Musa

    出版事項 2005
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    Artigo
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  13. 13
    Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes

    Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes 著者: Neus Martínez‐Abadías, Susan M. Motch, Talia L. Pankratz, Yingli Wang, Kristina Aldridge, Ethylin Wang Jabs, Joan T. Richtsmeier

    出版事項 2012
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    Artigo
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  14. 14
    Clinical spectrum of fibroblast growth factor receptor mutations

    Clinical spectrum of fibroblast growth factor receptor mutations 著者: M.R. Passos-Bueno, W.R. Wilcox, Ethylin Wang Jabs, Andréa L. Sertié, Luís Garcia Alonso, H. Kitoh

    出版事項 1999
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    Artigo
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  15. 15
    Clinical spectrum of fibroblast growth factor receptor mutations

    Clinical spectrum of fibroblast growth factor receptor mutations 著者: Maria Rita Passos‐Bueno, William R. Wilcox, Ethylin Wang Jabs, Andr�a L. Serti�, Luís Garcia Alonso, Hiroshi Kitoh

    出版事項 1999
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    Artigo
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  16. 16
    Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome

    Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome 著者: Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, U. Thomas Meier

    出版事項 2000
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    Artigo
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  17. 17
    Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis

    Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis 著者: Sandra D. Richardson, Marilyn L. Browne, Sonja A. Rasmussen, Charlotte M. Druschel, Lixian Sun, Ethylin Wang Jabs, Paul A. Romitti

    出版事項 2011
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    Artigo
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  18. 18
    The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect

    The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect 著者: Song-Ro Yoon, Jian Qin, Rivka L. Glaser, Ethylin Wang Jabs, Nancy S. Wexler, Rebecca Z. Sokol, Norman Arnheim, Peter Calabrese

    出版事項 2009
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    Artigo
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  19. 19
    <i>TCOF1</i> gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

    <i>TCOF1</i> gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region 著者: Carol A. Wise, Lydia C. Chiang, William A. Paznekas, Mridula Sharma, Maurice M. Musy, Jennifer Ashley, Michael Lovett, Ethylin Wang Jabs

    出版事項 1997
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    Artigo
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  20. 20
    Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm

    Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm 著者: Andrew J. Wyrobek, Brenda Eskenazi, Suzanne Young, Norman Arnheim, Irene Tiemann‐Boege, Ethylin Wang Jabs, Rivka L. Glaser, Francesca Pearson, D.P. Evenson

    出版事項 2006
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    Artigo
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