نتائج البحث - Dan Doherty
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The genetics of cerebellar malformations حسب Kimberly A. Aldinger, Dan Doherty
منشور في 2016Revisão -
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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking حسب Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty
منشور في 2011Artigo -
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Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation حسب Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich
منشور في 2008Artigo -
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Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice حسب George Stratigopoulos, Jayne F. Martin Carli, Diana R. O’Day, Liheng Wang, Charles A. LeDuc, Patricia Lanzano, Wendy K. Chung, Michael Rosenbaum, Dieter Egli, Dan Doherty, Rudolph L. Leibel
منشور في 2014Artigo -
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity حسب Gisele E. Ishak, Jennifer C. Dempsey, Dennis Shaw, Hannah M. Tully, Margaret P Adam, Pedro A. Sanchez‐Lara, Ian Glass, Tessa Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty
منشور في 2012Artigo -
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center حسب Brian P. Brooks, Wadih M. Zein, A. Thompson, Maryam Mokhtarzadeh, Dan Doherty, Melissa A. Parisi, Ian Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun
منشور في 2018Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction حسب Miroslav P. Milev, Megan E. Grout, Djenann Saint‐Dic, Yong-Han Hank Cheng, Ian Glass, Christopher J. Hale, D. Hanna, Michael O. Dorschner, Keshika Prematilake, Avraham Shaag, Orly Elpeleg, Michael Sacher, Dan Doherty, Simon Edvardson
منشور في 2017Artigo -
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes حسب Renske Oegema, Thomas D. Cushion, Ian G. Phelps, Seo‐Kyung Chung, Jennifer C. Dempsey, Sarah Collins, Jonathan G.L. Mullins, Tracy Dudding, Harinder Gill, Andrew Green, William B. Dobyns, Gisele E. Ishak, Mark I. Rees, Dan Doherty
منشور في 2015Artigo -
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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies حسب Markus Schueler, Jan Halbritter, Ian G. Phelps, Daniela A. Braun, Edgar A. Otto, Jonathan D. Porath, Heon Yung Gee, Jay Shendure, Brian J. O’Roak, Jennifer A. Lawson, Marwa M. Nabhan, Neveen A. Soliman, Dan Doherty, Friedhelm Hildebrandt
منشور في 2015Artigo -
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A human cell atlas of fetal chromatin accessibility حسب Silvia Domcke, Andrew J. Hill, Riza M. Daza, Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Kimberly A. Aldinger, Dmitry Pokholok, Fan Zhang, Jennifer H. Milbank, Michael Zager, Ian Glass, Frank J. Steemers, Dan Doherty, Cole Trapnell, Darren A. Cusanovich, Jay Shendure
منشور في 2020Artigo -
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A human cell atlas of fetal gene expression حسب Junyue Cao, Diana R. O’Day, Hannah A. Pliner, Paul D. Kingsley, Mei Deng, Riza M. Daza, Michael Zager, Kimberly A. Aldinger, Ronnie Blecher‐Gonen, Fan Zhang, Malte Spielmann, James Palis, Dan Doherty, Frank J. Steemers, Ian Glass, Cole Trapnell, Jay Shendure
منشور في 2020Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Phenotype
Joubert syndrome
Medicine
Cilium
Neuroscience
Ciliopathy
Cell biology
Ciliopathies
Mutation
Pathology
Anatomy
Cerebellum
Ciliogenesis
Computational biology
Exome sequencing
Nephronophthisis
Psychology
Internal medicine
Zebrafish
Bioinformatics
Disease
Epilepsy
Intraflagellar transport
Mutant
Neuroimaging
Polymicrogyria
Cerebellar vermis