検索結果 - R. Sean Hill

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  1. 1
    Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

    Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome 著者: Russell J. Ferland, Wafaa Eyaid, Randall V. Collura, Laura D Tully, R. Sean Hill, Doha Al-Nouri, Ahmed Al‐Rumayyan, Meral Topçu, Generoso G. Gascon, Adria Bodell, Yin Yao Shugart, Maryellen Ruvolo, Christopher A. Walsh

    出版事項 2004
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  2. 2
    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly 著者: Fowzan S. Alkuraya, Xuyu Cai, Carina Emery, Ganeshwaran H. Mochida, Mohammed S. Al‐Dosari, Jillian M. Felie, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Generoso G. Gascon, Amal Y. Kentab, Mohammed M. Jan, Ranad Shaheen, Yuanyi Feng, Christopher A. Walsh

    出版事項 2011
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  3. 3
    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

    A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts 著者: Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katharine Clapham, Daniel P. Rakiec, Wen‐Hann Tan, Nadia Akawi, Muna Al‐Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam R. Ali, Lihadh Al‐Gazali, Christopher A. Walsh

    出版事項 2010
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  4. 4
    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

    Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes 著者: Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill, Dian Donnai, Graeme Black, Éric Bieth, Nicolas Chassaing, Didier Lacombe, Koenraad Devriendt, Ahmad S. Teebi, Marı́a Loscertales, Caroline D. Robson, Tianming Liu, David T. MacLaughlin, Kristin Noonan, Meaghan Russell, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

    出版事項 2007
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  5. 5
    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations 著者: Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess C. Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony D. Hill, R. Sean Hill, Brenda J. Barry, Blaise F. D. Bourgeois, James J. Riviello, A. James Barkovich, Peter McL. Black, Keith L. Ligon, Christopher A. Walsh

    出版事項 2012
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  6. 6
    Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

    Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome 著者: M. Chiara Manzini, Dimira Tambunan, R. Sean Hill, Timothy W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana Gupta, Abdelkarim A. Al-Qudah, Wafaa Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin D. Clark, Isabella Moroni, Marina Mora, Alan H. Beggs, Stacey Gabriel, Christopher A. Walsh

    出版事項 2012
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  7. 7
    METTL23, a transcriptional partner of GABPA, is essential for human cognition

    METTL23, a transcriptional partner of GABPA, is essential for human cognition 著者: Rachel E. Reiff, Bassam R. Ali, Byron Baron, Timothy W. Yu, Salma Ben‐Salem, Michael E. Coulter, Christian Schubert, R. Sean Hill, Nadia Akawi, Banan Al‐Younes, Namik Kaya, Gilad D. Evrony, Muna Al‐Saffar, Jillian M. Felie, Jennifer N. Partlow, Christine Sunu, Pierre Schembri-Wismayer, Fowzan S. Alkuraya, Brian F. Meyer, Christopher A. Walsh, Lihadh Al‐Gazali, Ganeshwaran H. Mochida

    出版事項 2014
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  8. 8
    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

    Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures 著者: Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri, Jennifer N. Partlow, Dorothée Ville, Olivier Dulac, Timothy W. Yu, Anh-Thu N. Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Münnich, Laurence Colleaux, Leonard I. Zon, Dieter Söll, Christopher A. Walsh, Rima Nabbout

    出版事項 2014
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  9. 9
    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism 著者: Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, Sarn Jiralerspong, Kazuko Okamura‐Ikeda, Bulent Ataman, Klaus Schmitz‐Abe, David A. Harmin, Mazhar Adli, Athar N. Malik, Alissa M. D’Gama, Elaine T. Lim, Stephan Sanders, Ganeshwaran H. Mochida, Jennifer N. Partlow, Christine Sunu, Jillian M. Felie, Jacqueline Rodriguez, Ramzi H. Nasir, Janice Ware, Robert M. Joseph, R. Sean Hill, Benjamin Y. M. Kwan, Muna Al‐Saffar, Nahit Motavallı Mukaddes, Asif Hashmi, Soher Balkhy, Generoso G. Gascon, Fuki M. Hisama, Elaine LeClair, Annapurna Poduri, Özgür Öner, Samira Al-Saad, S A Al-Awadi, Lailá Bastaki, Tawfeg Ben‐Omran, Ahmad S. Teebi, Lihadh Al‐Gazali, Valsamma Eapen, Christine Stevens, Leonard Rappaport, Stacey Gabriel, Kyriacos Markianos, Matthew W. State, Michael E. Greenberg, Hisaaki Taniguchi, Nancy Braverman, Eric M. Morrow, Christopher A. Walsh

    出版事項 2013
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  10. 10
    Synaptic, transcriptional and chromatin genes disrupted in autism

    Synaptic, transcriptional and chromatin genes disrupted in autism 著者: Silvia De Rubeis, Xin He, Arthur P. Goldberg, Christopher S. Poultney, Kaitlin E. Samocha, A. Ercüment Çiçek, Yan Kou, Li Liu, Menachem Fromer, Susan L. Walker, Tarjinder Singh, Lambertus Klei, Jack A. Kosmicki, Shih‐Chen Fu, Branko Aleksić, Monica Biscaldi, Patrick Bolton, Jessica M. Brownfeld, Jinlu Cai, Nicholas G. Campbell, Ángel Carracedo, Maria H. Chahrour, Andreas G. Chiocchetti, Hilary Coon, Emily L. Crawford, Lucy Crooks, Sarah Curran, Géraldine Dawson, Eftichia Duketis, Bridget A. Fernandez, Louise Gallagher, Evan Geller, Stephen J. Guter, R. Sean Hill, Iuliana Ionita‐Laza, Patricia González, Helena Kilpinen, Sabine M. Klauck, Alexander Kolevzon, Irene Lee, Jing Lei, Terho Lehtimäki, Chiao‐Feng Lin, Avi Ma’ayan, Christian R. Marshall, Alison McInnes, Benjamin M. Neale, Michael J. Owen, Norio Ozaki, Mara Parellada, Jeremy Parr, Shaun Purcell, Kaija Puura, Deepthi Rajagopalan, Karola Rehnström, Abraham Reichenberg, Aniko Sabo, Michael Max Sachse, Stephan Sanders, Chad Schafer, Martin Schulte‐Rüther, David Skuse, Christine Stevens, Peter Szatmari, Kristiina Tammimies, Otto Valladares, Annette Voran, Li‐San Wang, Lauren A. Weiss, A. Jeremy Willsey, Timothy W. Yu, Ryan K. C. Yuen, Edwin H. Cook, Christine M. Freitag, Michael Gill, Christina M. Hultman, Thomas Lehner, Aarno Palotie, Gerard D. Schellenberg, Pamela Sklar, Matthew W. State, James S. Sutcliffe, Christopher A. Walsh, Stephen W. Scherer, Michael E. Zwick, Jeffrey C. Barrett, David J. Cutler, Kathryn Roeder, Bernie Devlin, Mark J. Daly, Joseph D. Buxbaum

    出版事項 2014
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  11. 11
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 著者: Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    出版事項 2016
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