অনুসন্ধান ফলাফলগুলি - Dan Doherty
- প্রদর্শন 1 - 20 ফলাফল এর 49
- পরবর্তী পৃষ্ঠায় যান
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Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease অনুযায়ী Dan Doherty
প্রকাশিত 2009Revisão -
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The genetics of cerebellar malformations অনুযায়ী Kimberly A. Aldinger, Dan Doherty
প্রকাশিত 2016Revisão -
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The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking অনুযায়ী Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty
প্রকাশিত 2011Artigo -
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Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation অনুযায়ী Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich
প্রকাশিত 2008Artigo -
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Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice অনুযায়ী 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
প্রকাশিত 2014Artigo -
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Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity অনুযায়ী 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
প্রকাশিত 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 অনুযায়ী 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
প্রকাশিত 2018Artigo -
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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction অনুযায়ী 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
প্রকাশিত 2017Artigo -
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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes অনুযায়ী 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
প্রকাশিত 2015Artigo -
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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies অনুযায়ী 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
প্রকাশিত 2015Artigo -
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A human cell atlas of fetal chromatin accessibility অনুযায়ী 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
প্রকাশিত 2020Artigo -
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A human cell atlas of fetal gene expression অনুযায়ী 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
প্রকাশিত 2020Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
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