Ngā hua rapu - 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 mā Dan Doherty

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    The genetics of cerebellar malformations

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

    I whakaputaina 2016
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  3. 3
    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Dan Doherty, Kathleen J. Millen, A. James Barkovich

    I whakaputaina 2013
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  5. 5
    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies

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

    I whakaputaina 2022
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  6. 6
    Joubert syndrome (and related disorders) (OMIM 213300)

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

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Nina de Lacy, Dan Doherty, Brian King, Srinivas Rachakonda, Vince D. Calhoun

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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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. mā Dan Doherty, Georg Feger, Susan Younger-Shepherd, Lily Yeh Jan, Yuh Nung Jan

    I whakaputaina 1996
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Xiaoyu Shi, Galo García, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

    <i>KIAA0586</i>is Mutated in Joubert Syndrome mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2015
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    Artigo
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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 mā 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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    A human cell atlas of fetal chromatin accessibility

    A human cell atlas of fetal chromatin accessibility mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    A human cell atlas of fetal gene expression

    A human cell atlas of fetal gene expression mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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