Resultats de la cerca - Dan Doherty

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

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

    Publicat 2009
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  2. 2
    The genetics of cerebellar malformations

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

    Publicat 2016
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  3. 3
    Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

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

    Publicat 2014
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  4. 4
    Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

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

    Publicat 2013
    Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  5. 5
    The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies

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

    Publicat 2022
    Obtenir text complet Obtenir text complet
    Revisão
    Afegir a favorits
    Guardat en:
  6. 6
    Joubert syndrome (and related disorders) (OMIM 213300)

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

    Publicat 2007
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Nina de Lacy, Dan Doherty, Brian King, Srinivas Rachakonda, Vince D. Calhoun

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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. per Dan Doherty, Georg Feger, Susan Younger-Shepherd, Lily Yeh Jan, Yuh Nung Jan

    Publicat 1996
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Ruxandra Bachmann‐Gagescu, Ian G. Phelps, George Stearns, Brian A. Link, Susan E. Brockerhoff, Cecilia B. Moens, Dan Doherty

    Publicat 2011
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich

    Publicat 2008
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per Xiaoyu Shi, Galo García, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

    Publicat 2017
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  12. 12
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

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

    Publicat 2015
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2014
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2012
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2018
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  16. 16
    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction

    Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction per 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

    Publicat 2017
    Obtenir text complet Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  17. 17
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes per 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

    Publicat 2015
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  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 per 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

    Publicat 2015
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  19. 19
    A human cell atlas of fetal chromatin accessibility

    A human cell atlas of fetal chromatin accessibility per 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

    Publicat 2020
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:
  20. 20
    A human cell atlas of fetal gene expression

    A human cell atlas of fetal gene expression per 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

    Publicat 2020
    Obtenir text complet
    Artigo
    Afegir a favorits
    Guardat en:

Eines de cerca: