Výsledky vyhledávání - Jennifer N. Partlow

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  1. 1
    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 Autor 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

    Vydáno 2017
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  2. 2
    Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

    Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication Autor Andrew Kodani, Timothy W. Yu, Jeffrey R. Johnson, Divya Jayaraman, Tasha L. Johnson, Lihadh Al‐Gazali, László Sztriha, Jennifer N. Partlow, Hanjun Kim, Alexis Leigh Krup, Alexander Dammermann, Nevan J. Krogan, Christopher A. Walsh, Jeremy F. Reiter

    Vydáno 2015
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  3. 3
    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 Autor 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

    Vydáno 2013
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  4. 4
    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

    Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly Autor 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

    Vydáno 2011
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  5. 5
    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 Autor 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

    Vydáno 2010
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  6. 6
    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East

    Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East Autor M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh

    Vydáno 2008
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  7. 7
    Loss of PCLO function underlies pontocerebellar hypoplasia type III

    Loss of PCLO function underlies pontocerebellar hypoplasia type III Autor 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

    Vydáno 2015
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  8. 8
    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 Autor 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

    Vydáno 2012
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  9. 9
    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 Autor 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

    Vydáno 2015
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  10. 10
    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

    CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development Autor 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

    Vydáno 2012
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  11. 11
    Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

    Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy Autor Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, Khaloob Mushref, Edmund Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A. Sellars, Robert Hill, Jennifer N. Partlow, Rebecca Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E. Swan, Thomas Voit, Francesco J. Conti, Yalda Jamshidi, M. Chiara Manzini

    Vydáno 2017
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  12. 12
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number Autor 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

    Vydáno 2014
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  13. 13
    METTL23, a transcriptional partner of GABPA, is essential for human cognition

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

    Vydáno 2014
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  14. 14
    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 Autor 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

    Vydáno 2014
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  15. 15
    Evolution of Osteocrin as an activity-regulated factor in the primate brain

    Evolution of Osteocrin as an activity-regulated factor in the primate brain Autor Bulent Ataman, Gabriella L. Boulting, David A. Harmin, Marty G. Yang, Mollie Baker-Salisbury, Ee-Lynn Yap, Athar N. Malik, Kevin Mei, Alex A Rubin, Ivo Spiegel, Ershela Durresi, Nikhil Sharma, Linda Hu, Mihovil Pletikos, Eric C. Griffith, Jennifer N. Partlow, Christine Stevens, Mazhar Adli, Maria H. Chahrour, Nenad Šestan, Christopher A. Walsh, V. K. Berezovskii, Margaret S. Livingstone, Michael E. Greenberg

    Vydáno 2016
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  16. 16
    Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

    Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry Autor Eric M. Morrow, Seung-Yun Yoo, Steven W. Flavell, Tae-Kyung Kim, Yingxi Lin, Robert Hill, Nahit Motavallı Mukaddes, Soher Balkhy, Generoso G. Gascon, Asif Hashmi, Samira Al-Saad, Janice Ware, Robert M. Joseph, Rachel Greenblatt, Danielle Gleason, Julia A. Ertelt, Kira Apse, Adria Bodell, Jennifer N. Partlow, Brenda J. Barry, Hui Yao, Kyriacos Markianos, Russell J. Ferland, Michael E. Greenberg, Christopher A. Walsh

    Vydáno 2008
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  17. 17
    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy

    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy Autor Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco M. Lasorsa, Princess C. Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Hill, Kutay Deniz Atabay, Brenda J. Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. Kabiraj, Sanjeev V. Kothare, Tommy Stödberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh

    Vydáno 2013
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  18. 18
    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

    Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development Autor Richard S. Smith, Connor Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, Robert Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna‐Kaisa Anttonen, Jaakko Ignatius, Līvija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie‐Claire Y. de Wit, Grazia M.S. Mancini, László Sztriha, Kiho Im, Dina Amrom, Eva Andermann, Ritva Paetau, Anna‐Elina Lehesjoki, Christopher A. Walsh, Maria K. Lehtinen

    Vydáno 2018
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  19. 19
    Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

    Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features Autor Qing Ouyang, Tojo Nakayama, Ozan Baytaş, Shawn M. Davidson, Chendong Yang, M Schmidt, Sofia B. Lizarraga, Sasmita Mishra, Malak EI-Quessny, Saima Niaz, Mirrat Gul Butt, Syed Imran Murtaza, Afzal Javed, Haroon Rashid Chaudhry, Dylan J. Vaughan, Robert Hill, Jennifer N. Partlow, Seung-Yun Yoo, Anh-Thu N. Lam, Ramzi Nasir, Muna Al‐Saffar, A. James Barkovich, Matthew Schwede, Shailender Nagpal, Anna Rajab, Ralph J. DeBerardinis, David E. Housman, Ganeshwaran H. Mochida, Eric M. Morrow

    Vydáno 2016
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  20. 20
    Somatic Mutations in Cerebral Cortical Malformations

    Somatic Mutations in Cerebral Cortical Malformations Autor Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher, Alissa M. D’Gama, Jian Wang, Brenda J. Barry, Xiaochang Zhang, Robert Hill, Jennifer N. Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K. Mehta, Meral Topçu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E. Scheffer, Samuel F. Berkovic, Richard J. Leventer, Yiping Shen, Bai Lin Wu, A. James Barkovich, Mustafa Şahin, Bernard S. Chang, Michael J. Bamshad, Deborah A. Nickerson, Jay Shendure, Annapurna Poduri, Timothy W. Yu, Christopher A. Walsh

    Vydáno 2014
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