Výsledky vyhledávání - Dimira Tambunan

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  1. 1
    Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

    Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome Autor Heather E. Olson, Dimira Tambunan, Christopher M. LaCoursiere, Marti Goldenberg, Rebecca Pinsky, Emilie Martin, Eugenia Ho, Omar Khwaja, Walter E. Kaufmann, Annapurna Poduri

    Vydáno 2015
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  2. 2
    Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits

    Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits Autor Adam W. Oaks, Marta Zamarbide, Dimira Tambunan, Emanuela Santini, Stefania Di Costanzo, Heather L. Pond, Mark W. Johnson, Jeff Chien-Fu Lin, Dilenny M. Gonzalez, J Boehler, Guangying K. Wu, Eric Klann, Christopher A. Walsh, M. Chiara Manzini

    Vydáno 2016
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  3. 3
    <i>SCN2A</i> encephalopathy

    <i>SCN2A</i> encephalopathy Autor Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard F. Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

    Vydáno 2015
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  4. 4
    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

    Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression Autor Heather E. Olson, McKenna Kelly, Christopher M. LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H. Libenson, Kristina Jülich, Tobias Loddenkemper, Eric D. Marsh, Devorah Segal, Susan Koh, Michael S. Salman, Alex R. Paciorkowski, Edward Yang, Ann M. Bergin, Beth Rosen Sheidley, Annapurna Poduri

    Vydáno 2017
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  5. 5
    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

    CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis Autor M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra B. Laurent, Zohair Nanjiani, Saima Rasheed, Robert Hill, Sofia B. Lizarraga, Danielle Gleason, M. Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh

    Vydáno 2014
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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 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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  7. 7
    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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  8. 8
    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

    Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan Autor Elizabeth Stevens, Keren Carss, Sebahattin Çirak, A. Reghan Foley, Silvia Torelli, Tobias Willer, Dimira Tambunan, Shu Yau, Lina Brodd, Caroline A. Sewry, Lucy Feng, Göknur Haliloğlu, Dıclehan Orhan, William B. Dobyns, Gregory M. Enns, Melanie Manning, Amanda Krause, Mustafa A. Salih, Christopher A. Walsh, Matthew E. Hurles, Kevin P. Campbell, M. Chiara Manzini, Derek L. Stemple, Yung‐Yao Lin, Francesco Muntoni

    Vydáno 2013
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