Výsledky vyhledávání - Gisele E. Ishak

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  1. 1
    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 Autor Patrice Jissendi‐Tchofo, Dan Doherty, George McGillivray, Robert F. Hevner, Dennis Shaw, Gisele E. Ishak, Richard J. Leventer, A. James Barkovich

    Vydáno 2008
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  2. 2
    Expanding the Distinctive Neuroimaging Phenotype of <i>ACTA2</i> Mutations

    Expanding the Distinctive Neuroimaging Phenotype of <i>ACTA2</i> Mutations Autor Felice D’Arco, César Augusto Pinheiro Ferreira Alves, Charles Raybaud, W.K. Chong, Gisele E. Ishak, Saipriya Ramji, Maria Angela Grima, A. James Barkovich, Vijeya Ganesan

    Vydáno 2018
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  3. 3
    <i>KIAA0586</i>is Mutated in Joubert Syndrome

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

    Vydáno 2015
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  4. 4
    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 Autor 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

    Vydáno 2012
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  5. 5
    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

    Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes Autor 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

    Vydáno 2015
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  6. 6
    Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

    Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy Autor Juliane Gust, Olivia Finney, Daniel Li, Hannah Brakke, Roxana Hicks, Robert B. Futrell, Danielle N. Gamble, Stephanie D. Rawlings‐Rhea, Hedieh Khalatbari, Gisele E. Ishak, Virginia E. Duncan, Robert F. Hevner, Michael C. Jensen, Julie R. Park, Rebecca Gardner

    Vydáno 2019
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  7. 7
    Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

    Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability Autor Muzammil Ahmad Khan, Muhammad Rafiq, Abdul Noor, Shobbir Hussain, Joana V. Flores, Verena Rupp, Akshita K. Vincent, Roland Malli, Ghazanfar Ali, Falak Sher Khan, Gisele E. Ishak, Dan Doherty, Rosanna Weksberg, Muhammad Ayub, Christian Windpassinger, Shahnaz Ibrahim, Michaela Frye, Muhammad Ansar, John B. Vincent

    Vydáno 2012
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  8. 8
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Autor Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns

    Vydáno 2015
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  9. 9
    Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

    Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation Autor Asif Mir, Liana Kaufman, Abdul Noor, M. Mahdi Motazacker, Talal Jamil, Matloob Azam, Kimia Kahrizi, Muhammad Rafiq, Rosanna Weksberg, Tanveer Nasr, Farooq Naeem, Andreas Tzschach, Andreas W. Kuß, Gisele E. Ishak, Dan Doherty, Hans‐Hilger Ropers, A. James Barkovich, Hossein Najmabadi, Muhammad Ayub, John B. Vincent

    Vydáno 2009
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  10. 10
    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

    Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy Autor Jessica X. Chong, Viviana Caputo, Ian G. Phelps, Lorenzo Stella, Lisa Worgan, Jennifer C. Dempsey, Alina Nguyen, Vincenzo Leuzzi, Richard Webster, Antonio Pizzuti, Colby T. Marvin, Gisele E. Ishak, Simone Ardern‐Holmes, Zara Richmond, Michael J. Bamshad, Xilma R. Ortiz‐González, Marco Tartaglia, Maya Chopra, Dan Doherty

    Vydáno 2016
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  11. 11
    GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

    GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome Autor Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fejes, Hashem Shahin, Moien Kanaan, Hatice Akay, Mustafa Tekin, Barbara L. Triggs‐Raine, Teresa Zelinski

    Vydáno 2012
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  12. 12
    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

    Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy Autor Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel, Karen W. Gripp, Laura Baker, Mark J. Stephan, François Bernier, Kym M. Boycott, Jacek Majewski, Jillian S. Parboosingh, A. Micheil Innes, Dan Doherty

    Vydáno 2014
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  13. 13
    Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

    Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability Autor Muhammad Rafiq, Andreas W. Kuß, Lucia Puettmann, Abdul Noor, Annapoorani Ramiah, Ghazanfar Ali, Hao Hu, Nadir Ali Kerio, Yong Xiang, Masoud Garshasbi, Muzammil Ahmad Khan, Gisele E. Ishak, Rosanna Weksberg, Reinhard Ullmann, Andreas Tzschach, Kimia Kahrizi, Khalid Mahmood, Farooq Naeem, Muhammad Ayub, Kelley W. Moremen, John B. Vincent, Hans Hilger Ropers, Muhammad Ansar, Hossein Najmabadi

    Vydáno 2011
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  14. 14
    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity Autor Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Ian G. Phelps, Brian J. O’Roak, Dana Knutzen, Tessa Rue, Gisele E. Ishak, Christine R. Isabella, Nicholas T. Gorden, Jonathan Adkins, E A Boyle, Nathan Lacy, Diana R. O’Day, Abdulrahman Alswaid, Radha Ramadevi A, Lokesh Lingappa, Charles Marques Lourenço, Loreto Martorell, Ángeles García‐Cazorla, Hamìt Özyürek, Göknur Haliloğlu, Beyhan Tüysüz, Meral Topçu, P. F. Chance, Melissa A. Parisi, Ian Glass, Jay Shendure, Dan Doherty

    Vydáno 2015
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  15. 15
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy Autor Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    Vydáno 2013
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  16. 16
    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

    MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance Autor William B. Dobyns, Kimberly A. Aldinger, Gisele E. Ishak, Ghayda Mirzaa, Andrew E. Timms, Megan E. Grout, Marjolein H. G. Dremmen, Rachel Schot, Laura Vandervore, Marjon A. van Slegtenhorst, Martina Wilke, Esmee Kasteleijn, Arthur S. Lee, Brenda J. Barry, Katherine R. Chao, Krzysztof Szczałuba, Joyce A. Kobori, Andrea Hanson‐Kahn, Jonathan A. Bernstein, Lucinda Carr, Felice D’Arco, Kaori Miyana, Tetsuya Okazaki, Yoshiaki Saito, Masayuki Sasaki, Soma Das, Marsha M. Wheeler, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth C. Engle, Frans W. Verheijen, Dan Doherty, Grazia M.S. Mancini

    Vydáno 2018
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  17. 17
    Association of<i>MTOR</i>Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

    Association of<i>MTOR</i>Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism Autor Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff, Carleton P. Goold, Laura A. Jansen, Suchithra Menon, Andrew E. Timms, Valerio Conti, Jonathan Biag, Carissa Olds, Evan A. Boyle, Sarah Collins, Gisele E. Ishak, Sandra L. Poliachik, Katta M. Girisha, Kit San Yeung, Brian Hon‐Yin Chung, Elisa Rahikkala, Sonya A. Gunter, Sharon S. McDaniel, Colleen Macmurdo, Jonathan A. Bernstein, Beth Martin, Rebecca Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O. Dorschner, Shalini N. Jhangiani, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski, Jay Shendure, Russell P. Saneto, Edward J. Novotny, Christopher J. Wilson, William R. Sellers, Michael Morrissey, Robert F. Hevner, Jeffrey G. Ojemann, Renzo Guerrini, Leon O. Murphy, Wendy Winckler, William B. Dobyns

    Vydáno 2016
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  18. 18
    Redefining the Etiologic Landscape of Cerebellar Malformations

    Redefining the Etiologic Landscape of Cerebellar Malformations Autor Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda Mirzaa, James T. Bennett, Alexander Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Parthiv Haldipur, Chi Vicky Cheng, Sarah Collins, Kaylee Park, Jordan Zeiger, Lynne M. Overmann, Fowzan S. Alkuraya, Leslie G. Biesecker, Stephen R. Braddock, Sara Cathey, Megan T. Cho, Brian Hon‐Yin Chung, David B. Everman, Yuri A. Zárate, Julie R. Jones, Charles E. Schwartz, Amy Goldstein, Robert J. Hopkin, Ian D. Krantz, Roger L. Ladda, Kathleen A. Leppig, Barbara McGillivray, Susan L. Sell, Katherine Wusik, Joseph G. Gleeson, Deborah A. Nickerson, Michael J. Bamshad, Dianne Gerrelli, Steven Lisgo, Georg Seelig, Gisele E. Ishak, A. James Barkovich, Cynthia J. Curry, Ian Glass, Kathleen J. Millen, Dan Doherty, William B. Dobyns

    Vydáno 2019
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  19. 19
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Autor Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Vydáno 2019
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