Torthaí cuardaigh - Ethylin Wang Jabs
- 1 - 20 toradh as 67 á dtaispeáint
- Téigh chuig an gcéad leathanach eile
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Genetic basis of potential therapeutic strategies for craniosynostosis de réir Heather Melville, Yingli Wang, Peter J. Taub, Ethylin Wang Jabs
Foilsithe / Cruthaithe 2010Revisão -
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Parental origin of mutations in sporadic cases of Treacher Collins syndrome de réir Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos‐Bueno
Foilsithe / Cruthaithe 2003Artigo -
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Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses de réir Yann Heuzé, G.H. Holmes, Inga Peter, Joan T. Richtsmeier, Ethylin Wang Jabs
Foilsithe / Cruthaithe 2014Artigo -
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The human aquaporin-CHIP gene. Structure, organization, and chromosomal localization de réir Chulso Moon, Gregory M. Preston, C.A. Griffin, Ethylin Wang Jabs, Peter Agre
Foilsithe / Cruthaithe 1993Artigo -
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FGF/FGFR Signaling Coordinates Skull Development by Modulating Magnitude of Morphological Integration: Evidence from Apert Syndrome Mouse Models de réir Neus Martínez‐Abadías, Yann Heuzé, Yingli Wang, Ethylin Wang Jabs, Kristina Aldridge, Joan T. Richtsmeier
Foilsithe / Cruthaithe 2011Artigo -
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Ten-year experience of more than 35,000 orofacial clefts in Africa de réir Julia C Conway, Peter J. Taub, Rochelle Kling, Kurun Oberoi, John Doucette, Ethylin Wang Jabs
Foilsithe / Cruthaithe 2015Artigo -
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Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public de réir Saskia C. Sanderson, Sabrina A. Suckiel, Micol Zweig, Erwin P. Böttinger, Ethylin Wang Jabs, Lynne D. Richardson
Foilsithe / Cruthaithe 2015Artigo -
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Mapping the Treacher Collins syndrome locus to 5q31.3→q33.3 de réir Ethylin Wang Jabs, Xiang Li, Cathleen A. Coss, Eugene W. Taylor, Deborah A. Meyers, James L. Weber
Foilsithe / Cruthaithe 1991Artigo -
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The Paternal-Age Effect in Apert Syndrome Is Due, in Part, to the Increased Frequency of Mutations in Sperm de réir Rivka L. Glaser, Karl W. Broman, Rebecca L. Schulman, Brenda Eskenazi, Andrew J. Wyrobek, Ethylin Wang Jabs
Foilsithe / Cruthaithe 2003Artigo -
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Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia de réir Junko Shibayama, William A. Paznekas, Akiko Seki, Steven M. Taffet, Ethylin Wang Jabs, Mario Delmar, Hassan Musa
Foilsithe / Cruthaithe 2005Artigo -
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Tissue‐specific responses to aberrant FGF signaling in complex head phenotypes de réir Neus Martínez‐Abadías, Susan M. Motch, Talia L. Pankratz, Yingli Wang, Kristina Aldridge, Ethylin Wang Jabs, Joan T. Richtsmeier
Foilsithe / Cruthaithe 2012Artigo -
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Clinical spectrum of fibroblast growth factor receptor mutations de réir M.R. Passos-Bueno, W.R. Wilcox, Ethylin Wang Jabs, Andréa L. Sertié, Luís Garcia Alonso, H. Kitoh
Foilsithe / Cruthaithe 1999Artigo -
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Clinical spectrum of fibroblast growth factor receptor mutations de réir Maria Rita Passos‐Bueno, William R. Wilcox, Ethylin Wang Jabs, Andr�a L. Serti�, Luís Garcia Alonso, Hiroshi Kitoh
Foilsithe / Cruthaithe 1999Artigo -
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Characterization of the Nucleolar Gene Product, Treacle, in Treacher Collins Syndrome de réir Cynthia Isaac, Karen L. Marsh, William A. Paznekas, Jill Dixon, Michael J. Dixon, Ethylin Wang Jabs, U. Thomas Meier
Foilsithe / Cruthaithe 2000Artigo -
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Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis de réir Sandra D. Richardson, Marilyn L. Browne, Sonja A. Rasmussen, Charlotte M. Druschel, Lixian Sun, Ethylin Wang Jabs, Paul A. Romitti
Foilsithe / Cruthaithe 2011Artigo -
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The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect de réir Song-Ro Yoon, Jian Qin, Rivka L. Glaser, Ethylin Wang Jabs, Nancy S. Wexler, Rebecca Z. Sokol, Norman Arnheim, Peter Calabrese
Foilsithe / Cruthaithe 2009Artigo -
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<i>TCOF1</i> gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region de réir Carol A. Wise, Lydia C. Chiang, William A. Paznekas, Mridula Sharma, Maurice M. Musy, Jennifer Ashley, Michael Lovett, Ethylin Wang Jabs
Foilsithe / Cruthaithe 1997Artigo -
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Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm de réir Andrew J. Wyrobek, Brenda Eskenazi, Suzanne Young, Norman Arnheim, Irene Tiemann‐Boege, Ethylin Wang Jabs, Rivka L. Glaser, Francesca Pearson, D.P. Evenson
Foilsithe / Cruthaithe 2006Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Craniosynostosis
Craniofacial
Internal medicine
Receptor
Cell biology
Genotype
Missense mutation
Fibroblast growth factor
Molecular biology
Anatomy
Apert syndrome
Fibroblast growth factor receptor
Biochemistry
Chromosome
Genome
Pathology
Allele
Computer science
Connexin
Endocrinology
Fibroblast growth factor receptor 1
Gap junction
Intracellular
Mutant