檢索結果 - Arthur W. Grix
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Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting 由 Irfan Saadi, Fowzan S. Alkuraya, Stephen S. Gisselbrecht, Wolfram Goessling, Resy Cavallesco, Annick Turbé-Doan, Aline Petrin, James M. Harris, Ursela Siddiqui, Arthur W. Grix, Hanne Hove, Philippe Leboulch, Thomas W. Glover, Cynthia C. Morton, Antônio Richieri‐Costa, Jeffrey C. Murray, Robert P. Erickson, Richard L. Maas
出版 2011Artigo -
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Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks 由 Mauro Longoni, Kasper Lage, Meaghan Russell, Marı́a Loscertales, Omar Abdul‐Rahman, Gareth Baynam, Steven B. Bleyl, Paul Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen‐Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline Coletti, Faouzi I. Maalouf, Kristin Noonan, Ji Hyun Park, Adam Tracy, Charles Lee, Patricia K. Donahoe, Barbara R. Pober
出版 2012Artigo -
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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly 由 Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott
出版 2012Artigo
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Biology
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Genetics
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Phenotype
Actin
Actin cytoskeleton
Alternative medicine
Anatomy
Atresia
Audiology
Cell
Cell adhesion
Cell biology
Choanal atresia
Chromosome
Congenital diaphragmatic hernia
Craniofacial
Cytoskeleton
Diaphragmatic breathing
Diaphragmatic hernia
Epilepsy
Fetus
Gene knockdown
Haploinsufficiency
Hearing loss
Hernia
Locus (genetics)
Microcephaly
Morphogenesis