Torthaí cuardaigh - Dan Doherty

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  1. 1
    Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

    Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease de réir Dan Doherty

    Foilsithe / Cruthaithe 2009
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  2. 2
    The genetics of cerebellar malformations

    The genetics of cerebellar malformations de réir Kimberly A. Aldinger, Dan Doherty

    Foilsithe / Cruthaithe 2016
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  3. 3
    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach de réir Andrea Poretti, Eugen Boltshauser, Dan Doherty

    Foilsithe / Cruthaithe 2014
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  4. 4
    Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

    Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics de réir Dan Doherty, Kathleen J. Millen, A. James Barkovich

    Foilsithe / Cruthaithe 2013
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  5. 5
    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies

    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies de réir Julie C. Van De Weghe, Arianna Gómez, Dan Doherty

    Foilsithe / Cruthaithe 2022
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  6. 6
    Joubert syndrome (and related disorders) (OMIM 213300)

    Joubert syndrome (and related disorders) (OMIM 213300) de réir Melissa A. Parisi, Dan Doherty, Phillip F. Chance, Ian Glass

    Foilsithe / Cruthaithe 2007
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  7. 7
    Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum

    Disruption to control network function correlates with altered dynamic connectivity in the wider autism spectrum de réir Nina de Lacy, Dan Doherty, Brian King, Srinivas Rachakonda, Vince D. Calhoun

    Foilsithe / Cruthaithe 2017
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  8. 8
    Delta is a ventral to dorsal signal complementary to Serrate, another Notch ligand, in Drosophila wing formation.

    Delta is a ventral to dorsal signal complementary to Serrate, another Notch ligand, in Drosophila wing formation. de réir Dan Doherty, Georg Feger, Susan Younger-Shepherd, Lily Yeh Jan, Yuh Nung Jan

    Foilsithe / Cruthaithe 1996
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  9. 9
    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

    The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking de réir Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

    Foilsithe / Cruthaithe 2011
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  10. 10
    Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation

    Pontine Tegmental Cap Dysplasia: MR Imaging and Diffusion Tensor Imaging Features of Impaired Axonal Navigation de réir Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich

    Foilsithe / Cruthaithe 2008
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  11. 11
    Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

    Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome de réir Xiaoyu Shi, Galo García, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

    Foilsithe / Cruthaithe 2017
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  12. 12
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

    <i>KIAA0586</i>is Mutated in Joubert Syndrome de réir Ruxandra Bachmann‐Gagescu, Ian G. Phelps, Jennifer C. Dempsey, Vivek A. Sharma, Gisele E. Ishak, Evan A. Boyle, Meredith Wilson, Charles Marques Lourenço, Mutluay Arslan, Jay Shendure, Dan Doherty

    Foilsithe / Cruthaithe 2015
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  13. 13
    Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice

    Hypomorphism for RPGRIP1L, a Ciliary Gene Vicinal to the FTO Locus, Causes Increased Adiposity in Mice de réir 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

    Foilsithe / Cruthaithe 2014
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  14. 14
    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity

    Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity de réir 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

    Foilsithe / Cruthaithe 2012
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  15. 15
    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

    Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center de réir 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

    Foilsithe / Cruthaithe 2018
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  16. 16
    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction de réir 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

    Foilsithe / Cruthaithe 2017
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  17. 17
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes de réir 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

    Foilsithe / Cruthaithe 2015
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  18. 18
    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

    Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies de réir 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

    Foilsithe / Cruthaithe 2015
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  19. 19
    A human cell atlas of fetal chromatin accessibility

    A human cell atlas of fetal chromatin accessibility de réir 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

    Foilsithe / Cruthaithe 2020
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  20. 20
    A human cell atlas of fetal gene expression

    A human cell atlas of fetal gene expression de réir 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

    Foilsithe / Cruthaithe 2020
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