Resultados de procura - Ganeshwaran H. Mochida

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  1. 1
    Genetics and Biology of Microcephaly and Lissencephaly

    Genetics and Biology of Microcephaly and Lissencephaly por Ganeshwaran H. Mochida

    Publicado 2009
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  2. 2
    Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency

    Early Levodopa Therapy in Tyrosine Hydroxylase Deficiency por Claudio M. de Gusmão, Roser Pons, Ganeshwaran H. Mochida, Laura Silveira‐Moriyama, Fernando Kok

    Publicado 2025
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  3. 3
    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

    A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly por Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

    Publicado 2009
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  4. 4
    Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016

    Congenital brain abnormalities during a Zika virus epidemic in Salvador, Brazil, April 2015 to July 2016 por Mariana Kikuti, Cristiane Wanderley Cardoso, Ana P.B. Prates, Igor A. D. Paploski, Uriel Kitron, Mitermayer Galvão dos Reis, Ganeshwaran H. Mochida, Guilherme S. Ribeiro

    Publicado 2018
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  5. 5
    Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures

    Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures por Almundher Al‐Maawali, Brenda J. Barry, Anna Rajab, Malak El‐Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida, Joan M. Stoler

    Publicado 2015
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  6. 6
    Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy

    Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy por Tojo Nakayama, Jiang Wu, Patricia Galvin‐Parton, Jody Weiss, Mary R. Andriola, Robert Hill, Dylan J. Vaughan, Malak El‐Quessny, Brenda J. Barry, Jennifer N. Partlow, A. James Barkovich, Jiqiang Ling, Ganeshwaran H. Mochida

    Publicado 2017
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  7. 7
    Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate

    Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate por Divya Jayaraman, Andrew Kodani, Dilenny M. Gonzalez, Joseph D. Mancias, Ganeshwaran H. Mochida, Cristiana Vagnoni, Jeffrey R. Johnson, Nevan J. Krogan, J. Wade Harper, Jeremy F. Reiter, Timothy W. Yu, Byoung-Il Bae, Christopher A. Walsh

    Publicado 2016
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  8. 8
    Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

    Deletions in <i>GRID2</i> lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans por L. Benjamin Hills, Amira Masri, Kotaro Konno, Wataru Kakegawa, Anh-Thu N. Lam, Elizabeth Lim-Melia, Nandini Chandy, Robert Hill, Jennifer N. Partlow, Muna Al‐Saffar, Ramzi Nasir, Joan M. Stoler, A. James Barkovich, Masahiko Watanabe, Michisuke Yuzaki, Ganeshwaran H. Mochida

    Publicado 2013
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  9. 9
    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly por 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

    Publicado 2011
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  10. 10
    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 por 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

    Publicado 2010
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  11. 11
    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

    Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture por Timothy W. Yu, Ganeshwaran H. Mochida, David J. Tischfield, Sema K. Sgaier, Laura Flores‐Sarnat, Consolato Sergi, Meral Topçu, Marie McDonald, Brenda J. Barry, Jillian M. Felie, Christine Sunu, William B. Dobyns, Rebecca D. Folkerth, A. James Barkovich, Christopher A. Walsh

    Publicado 2010
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  12. 12
    Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

    Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size por Jacquelyn Bond, Sheila Scott, Daniel J. Hampshire, Kelly Springell, Peter Corry, Marc Abramowicz, Ganeshwaran H. Mochida, Raoul C. M. Hennekam, Eamonn R. Maher, Jean‐Pierre Fryns, Abdulrahman Alswaid, Hussain Jafri, Yasmin Abdul Rashid, Ammar F. Mubaidin, Christopher A. Walsh, Emma Roberts, C. Geoffrey Woods

    Publicado 2003
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  13. 13
    Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

    Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly por Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R. Arenkiel, Priya S. Shah, Nevan J. Krogan, Hatip Aydın, Bilgen Bilge Geçkinli, Tülay Tos, Sedat Işıkay, Beyhan Tüysüz, Ganeshwaran H. Mochida, Ajay X. Thomas, Robin D. Clark, Ghayda Mirzaa, James R. Lupski, Hugo J. Bellen

    Publicado 2019
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  14. 14
    Loss of PCLO function underlies pontocerebellar hypoplasia type III

    Loss of PCLO function underlies pontocerebellar hypoplasia type III por Momin Ahmed, Barry A. Chioza, Anna Rajab, Klaus Schmitz‐Abe, Aisha Al‐Khayat, Saeed Al-Turki, Emma L. Baple, Michael A. Patton, A. Al‐Memar, Matthew E. Hurles, Jennifer N. Partlow, Robert Hill, Gilad D. Evrony, Sarah Servattalab, Kyriacos Markianos, Christopher A. Walsh, Andrew H. Crosby, Ganeshwaran H. Mochida

    Publicado 2015
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  15. 15
    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination por Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen‐Hann Tan, Ramzi Nasir, Klaus Schmitz‐Abe, Robert Hill, Jennifer N. Partlow, Muna Al‐Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Górski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida

    Publicado 2015
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  16. 16
    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development por Ganeshwaran H. Mochida, Vijay Ganesh, María I. de Michelena, Hugo Dias, Kutay Deniz Atabay, Katie L. Kathrein, Hsuan-Ting Huang, Robert Hill, Jillian M. Felie, Daniel P. Rakiec, Danielle Gleason, Anthony D. Hill, Athar N. Malik, Brenda J. Barry, Jennifer N. Partlow, Wen‐Hann Tan, Laurie Glader, A. James Barkovich, William B. Dobyns, Leonard I. Zon, Christopher A. Walsh

    Publicado 2012
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  17. 17
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number por Wen Fan Hu, Oz Pomp, Tawfeg Ben‐Omran, Andrew Kodani, Katrin Henke, Ganeshwaran H. Mochida, Timothy W. Yu, Mollie B. Woodworth, Carine Bonnard, Grace Selva Raj, Thong Teck Tan, Hanan Hamamy, Amira Masri, Mohammad Shboul, Muna Al Saffar, Jennifer N. Partlow, Mohammed S. Al‐Dosari, Anas M. Alazami, Mohammed Al‐Owain, Fowzan S. Alkuraya, Jeremy F. Reiter, Matthew P. Harris, Bruno Reversade, Christopher A. Walsh

    Publicado 2014
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  18. 18
    METTL23, a transcriptional partner of GABPA, is essential for human cognition

    METTL23, a transcriptional partner of GABPA, is essential for human cognition por 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

    Publicado 2014
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  19. 19
    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 por 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

    Publicado 2014
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  20. 20
    The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles

    The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles por Michael E. Coulter, Cristina M. Dorobantu, Gerrald A. Lodewijk, François Delalande, Sarah Cianférani, Vijay Ganesh, Richard S. Smith, Elaine T. Lim, C. Shan Xu, Song Pang, Eric T. Wong, Hart G.W. Lidov, Monica L. Calicchio, Edward Yang, Dilenny M. Gonzalez, Thorsten M. Schlaeger, Ganeshwaran H. Mochida, Harald F. Hess, Wei-Chung Allen Lee, Maria K. Lehtinen, Tomas Kirchhausen, David Haussler, Frank M. J. Jacobs, Raphaël Gaudin, Christopher A. Walsh

    Publicado 2018
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