Zoekresultaten - 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 door Heather Melville, Yingli Wang, Peter J. Taub, Ethylin Wang Jabs

    Gepubliceerd in 2010
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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. door David H. Joziasse, J H Shaper, Ethylin Wang Jabs, Nancy L. Shaper

    Gepubliceerd in 1991
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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 door Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos‐Bueno

    Gepubliceerd in 2003
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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 door Yann Heuzé, G.H. Holmes, Inga Peter, Joan T. Richtsmeier, Ethylin Wang Jabs

    Gepubliceerd in 2014
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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 door Chulso Moon, Gregory M. Preston, C.A. Griffin, Ethylin Wang Jabs, Peter Agre

    Gepubliceerd in 1993
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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 door Neus Martínez‐Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T. Richtsmeier

    Gepubliceerd in 2011
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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 door Julia C Conway, Peter J. Taub, Rochelle Kling, Kurun Oberoi, John Doucette, Ethylin Wang Jabs

    Gepubliceerd in 2015
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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 door Albert Lai, Dung-Nghi Le, William A. Paznekas, Wes D. Gifford, Ethylin Wang Jabs, Andrew Charles

    Gepubliceerd in 2006
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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 door Saskia C. Sanderson, Sabrina A. Suckiel, Micol Zweig, Erwin P. Böttinger, Ethylin Wang Jabs, Lynne D. Richardson

    Gepubliceerd in 2015
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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 door Ethylin Wang Jabs, Xiang Li, Cathleen A. Coss, Eugene W. Taylor, Deborah A. Meyers, James L. Weber

    Gepubliceerd in 1991
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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 door Rivka L. Glaser, Karl W. Broman, Rebecca L. Schulman, Brenda Eskenazi, Andrew J. Wyrobek, Ethylin Wang Jabs

    Gepubliceerd in 2003
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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 door Junko Shibayama, William A. Paznekas, Akiko Seki, Steven M. Taffet, Ethylin Wang Jabs, Mario Delmar, Hassan Musa

    Gepubliceerd in 2005
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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 door Neus Martínez‐Abadías, Susan M. Motch, Talia L. Pankratz, Yingli Wang, Kristina Aldridge, Ethylin Wang Jabs, Joan T. Richtsmeier

    Gepubliceerd in 2012
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  14. 14
    Clinical spectrum of fibroblast growth factor receptor mutations

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

    Gepubliceerd in 1999
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  15. 15
    Clinical spectrum of fibroblast growth factor receptor mutations

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

    Gepubliceerd in 1999
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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 door Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, U. Thomas Meier

    Gepubliceerd in 2000
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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 door Sandra D. Richardson, Marilyn L. Browne, Sonja A. Rasmussen, Charlotte M. Druschel, Lixian Sun, Ethylin Wang Jabs, Paul A. Romitti

    Gepubliceerd in 2011
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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 door Song-Ro Yoon, Jian Qin, Rivka L. Glaser, Ethylin Wang Jabs, Nancy S. Wexler, Rebecca Z. Sokol, Norman Arnheim, Peter Calabrese

    Gepubliceerd in 2009
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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 door Carol A. Wise, Lydia C. Chiang, William A. Paznekas, Mridula Sharma, Maurice M. Musy, Jennifer Ashley, Michael Lovett, Ethylin Wang Jabs

    Gepubliceerd in 1997
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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 door Andrew J. Wyrobek, Brenda Eskenazi, Suzanne Young, Norman Arnheim, Irene Tiemann‐Boege, Ethylin Wang Jabs, Rivka L. Glaser, Francesca Pearson, D.P. Evenson

    Gepubliceerd in 2006
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