Søgeresultater - Stuart Douglas
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Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia af Lijia Huang, Jodi Warman‐Chardon, Melissa T. Carter, K. Friend, Tracy Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W. Schofield, Stuart Douglas, Dennis E. Bulman, Kym M. Boycott
Udgivet 2012Artigo -
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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly af 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
Udgivet 2012Artigo -
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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone af Lijia Huang, Katarzyna Szymańska, Victor L. Jensen, Andreas Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross McLeod, François Bernier, Albert E. Chudley, Andreas Th. Müller, Mohammad Shboul, Clare V. Logan, Catrina M. Loucks, Chandree L. Beaulieu, Rachel V. Bowie, Sandra Bell, Jonathan Adkins, Freddi I. Zuniga, Kevin D. Ross, Jian Wang, Matthew R. Ban, Christian Becker, Peter Nürnberg, Stuart Douglas, Cheryl M. Craft, Marie-Andree Akimenko, Robert A. Hegele, Carole Ober, Gerd Utermann, Hanno J. Bolz, Dennis E. Bulman, Nicholas Katsanis, Oliver E. Blacque, Dan Doherty, Jillian S. Parboosingh, Michel R. Leroux, Colin A. Johnson, Kym M. Boycott
Udgivet 2011Artigo
Søgeredskaber:
Relaterede emner
Biology
Gene
Genetics
Medicine
Anatomy
Ataxia
Atresia
Audiology
Cerebellar ataxia
Choanal atresia
Cilium
Craniofacial
Developmental psychology
Haploinsufficiency
Hearing loss
Joubert syndrome
Microcephaly
Missense mutation
Mutation
Neuroscience
Pediatrics
Phenotype
Psychology
Sensorineural hearing loss
Spinocerebellar ataxia
Transition (genetics)
Treacher Collins syndrome