檢索結果 - Sarah Servattalab

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  1. 1
    Loss of PCLO function underlies pontocerebellar hypoplasia type III

    Loss of PCLO function underlies pontocerebellar hypoplasia type III 由 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

    出版 2015
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  2. 2
    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 由 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

    出版 2015
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  3. 3
    Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome

    Socioeconomic and Racial and/or Ethnic Disparities in Multisystem Inflammatory Syndrome 由 Karina Javalkar, Victoria Robson, Lukas K. Gaffney, Amy M. Bohling, Puneeta Arya, Sarah Servattalab, Jordan E. Roberts, Jeffrey I. Campbell, Sepehr Sekhavat, Jane W. Newburger, Sarah D. de Ferranti, Annette Baker, Pui Y. Lee, Megan Day‐Lewis, Emily M. Bucholz, Ryan Kobayashi, Mary Beth F. Son, Lauren A. Henderson, John N. Kheir, Kevin G. Friedman, Audrey Dionne

    出版 2021
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  4. 4
    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 由 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 2014
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  5. 5
    Biallelic mutations in human DCC cause developmental split-brain syndrome

    Biallelic mutations in human DCC cause developmental split-brain syndrome 由 Saumya Shekhar Jamuar, Klaus Schmitz‐Abe, Alissa M. D’Gama, Marie Drottar, Wai‐Man Chan, Maya Peeva, Sarah Servattalab, Anh-Thu N. Lam, Mauricio R. Delgado, Nancy J. Clegg, Zayed Al Zayed, Mohammad Asif Dogar, Ibrahim A. Alorainy, Abdullah Abu Jamea, Khaled K. Abu‐Amero, May L. Griebel, Wendy L. Ward, Ed S. Lein, Kyriacos Markianos, A. James Barkovich, Caroline D. Robson, P. Ellen Grant, Thomas M. Bosley, Elizabeth C. Engle, Christopher A. Walsh, Timothy W. Yu

    出版 2017
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  6. 6
    Somatic Mutations in Cerebral Cortical Malformations

    Somatic Mutations in Cerebral Cortical Malformations 由 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

    出版 2014
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