Որոնման արդյունքները - Muna Al Saffar

  • Ցուցադրվում են 1 - 13 արդյունքները 13
Հստակեցնել արդյունքները
  1. 1
    Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

    Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior ‌ Ryan N. Doan, Byoung-Il Bae, Beatriz Cubelos, Cindy Chang, Amer A. Hossain, Samira Al-Saad, Nahit Motavallı Mukaddes, Özgür Öner, Muna Al‐Saffar, Soher Balkhy, Generoso G. Gascon, Marta Nieto, Christopher A. Walsh

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  2. 2
    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 ‌ 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

    Հրապարակվել է 2013
    Ստացեք ամբողջական տեքստը
    Artigo
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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 ‌ 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

    Հրապարակվել է 2010
    Ստացեք ամբողջական տեքստը
    Artigo
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  4. 4
    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 ‌ 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

    Հրապարակվել է 2015
    Ստացեք ամբողջական տեքստը
    Artigo
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  5. 5
    Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

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

    Հրապարակվել է 2014
    Ստացեք ամբողջական տեքստը
    Artigo
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  6. 6
    METTL23, a transcriptional partner of GABPA, is essential for human cognition

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

    Հրապարակվել է 2014
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  7. 7
    Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

    Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival ‌ Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

    Հրապարակվել է 2020
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Տեքստ
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  8. 8
    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 ‌ 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

    Հրապարակվել է 2016
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  9. 9
    Genomic and phenotypic delineation of congenital microcephaly

    Genomic and phenotypic delineation of congenital microcephaly ‌ Ranad Shaheen, Sateesh Maddirevula, Nour Ewida, Saud Alsahli, Ghada M. H. Abdel‐Salam, Maha S. Zaki, Saeed Al Tala, Amal Alhashem, Ameen Softah, Mohammed Al‐Owain, Anas M. Alazami, Basma Abadel, Nisha Patel, Tarfa Al‐Sheddi, Rana Alomar, Eman Alobeid, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Muddathir H. Hamad, Brahim Tabarki, Ali H. Alwadei, Fahad Al-Hazzani, Fahad A. Bashiri, Amal Y. Kentab, Serdar Şahintürk, Elliott H. Sherr, Brieana Fregeau, Samira Sogati, Saad AlShahwan, Salwa Alkhalifi, Zainab Alhumaidi, Samia A. Temtamy, Mona Aglan, Ghada A. Otaify, Katta M. Girisha, Maha Tulbah, Mohammed Zain Seidahmed, Mustafa A. Salih, Mohamed Abouelhoda, Afaque A. Momin, Muna Al Saffar, Jennifer N. Partlow, Stefan T. Arold, Eissa Faqeih, Christopher A. Walsh, Fowzan S. Alkuraya

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  10. 10
    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

    Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria ‌ Shyam K. Akula, Allen Y. Chen, Jennifer E. Neil, Diane D. Shao, Alisa Mo, Norma K. Hylton, Stephanie DiTroia, Vijay Ganesh, Richard S. Smith, Katherine O’kane, Rebecca C. Yeh, Jack H. Marciano, Samantha L. Kirkham, Connor Kenny, Janet Song, Muna Al Saffar, Francisca Millan, David J. Harris, Andrea V. Murphy, Kara C. Klemp, Stephen R. Braddock, Harrison Brand, Isaac Wong, Michael E. Talkowski, Anne O’Donnell‐Luria, Abbe Lai, Robert Hill, Ganeshwaran H. Mochida, Ryan N. Doan, A. James Barkovich, Edward Yang, Dina Amrom, Eva Andermann, Annapurna Poduri, Christopher A. Walsh, Bassam Abu‐Libdeh, Lihadh Al‐Gazali, Muna Al Saffar, Edith Alva Moncayo, Dina Amrom, Eva Anderman, Anna‐Kaisa Anttonen, Saunder Barnes, Sara Barnett, Todd F. Barron, Brenda J. Barry, Lina Basel‐Vanagaite, Lailá Bastaki, Luis Bello‐Espinosa, Tawfeg Ben‐Omran, Matthew P. Bernard, Carsten Bönneman, Blaise F. D. Bourgeois, S.D.M. Brown, Roberto Caraballo, Gergory Cascino, M Clarke, Monika Cohen, Yanick J. Crow, Bernard Dan, Kira A. Dies, William B. Dobyns, François Dubeau, Christelle Moufawad El Achkar, Gregory M. Enns, Laurence Faivre, Laura Flores‐Sarnat, John Gaitanis, Kuchukhidze Giorgi, Andrew Green, A. Guberman, Renzo Guerrini, Micheil Innes, R.G. Jacobsen, Sebastian Jacquemont, Samir Khalil, Joerg Klepper, Dimitri Kranic, Kalpathy Krishnamoorthy, Anna‐Elina Lehesjoki, Dorit Lev, Richard J. Leventer, Emily C. Lisi, Valerie Loik Ramey, Sally Ann Lynch, Laila Mahmoud, David K. Manchester, David E. Mandelbaum, Daphna Marom, Deborah Marsden, Mayra Martinez Ojeda, Amira Masri, Līvija Medne, Denis Melanson, David T. Miller, Anna Minster, Edward Neilan, Dang Khoa Nguyen, Heather E. Olson, I Pascual-Castroviejo

    Հրապարակվել է 2023
    Ստացեք ամբողջական տեքստը Ստացեք ամբողջական տեքստը
    Artigo
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  11. 11
    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

    Using Whole-Exome Sequencing to Identify Inherited Causes of Autism ‌ 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

    Հրապարակվել է 2013
    Ստացեք ամբողջական տեքստը
    Artigo
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  12. 12
    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

    Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract ‌ Amelie T. van der Ven, Dervla M. Connaughton, Hadas Ityel, Nina Mann, Makiko Nakayama, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Julian Schulz, Daniela A. Braun, Johanna Magdalena Schmidt, David Schapiro, Ronen Schneider, Jillian K. Warejko, Ankana Daga, Amar J. Majmundar, Weizhen Tan, Tilman Jobst‐Schwan, Tobias Hermle, Eugen Widmeier, Shazia Ashraf, Ali Amar, Charlotte A. Hoogstraaten, Hannah Hugo, Thomas M. Kitzler, Franziska Kause, Caroline M. Kolvenbach, Rufeng Dai, Leslie Spaneas, Kassaundra Amann, Deborah R. Stein, Michelle A. Baum, Michael J.G. Somers, Nancy Rodig, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Radovan Bogdanović, Nataša Stajić, Neveen A. Soliman, Jameela A. Kari, Sherif El Desoky, Hanan Fathy, Danko Milošević, Muna Al‐Saffar, Hazem S. Awad, Loai Eid, Aravind Selvin, Prabha Senguttuvan, Simone Sanna‐Cherchi, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Michael W. Wilson, Shrikant Mane, Richard P. Lifton, Richard S. Lee, Stuart B. Bauer, Lu W, Heiko Reutter, Velibor Tasić, Shirlee Shril, Friedhelm Hildebrandt

    Հրապարակվել է 2018
    Ստացեք ամբողջական տեքստը
    Artigo
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  13. 13
    Global multi-stakeholder endorsement of the MAFLD definition

    Global multi-stakeholder endorsement of the MAFLD definition ‌ Nahúm Méndez‐Sánchez, Elisabetta Bugianesi, Robert G. Gish, Frank Lammert, Herbert Tilg, Mindie H. Nguyen, Shiv Kumar Sarin, Núria Fabrellas, Shira Zelber‐Sagi, Jian‐Gao Fan, Gamal Shiha, Giovanni Targher, Ming‐Hua Zheng, Wah‐Kheong Chan, Shlomo Vinker, Takumi Kawaguchi, Laurent Castéra, Yusuf Yılmaz, Marko Korenjak, C Wendy Spearman, Mehmet Ungan, Melissa Palmer, Mortada El‐Shabrawi, Hans-Juergen Gruss, Jean‐François Dufour, Anil Dhawan, Heiner Wedemeyer, Jacob George, Luca Valenti, Yasser Fouad, Manuel Romero‐Gómez, Mohammed Eslam, Maria Lorena Abate, Bahaa Abbas, Ahmed Amr Abbassy, Waleed Abd El Ghany, Amira Abd Elkhalek, Emad Abd ElMajeed, Mohammad Abdalgaber, Mohamed AbdAllah, Marwa Abdallah, Nourhan Abdallah, Shereen Abdelaleem, Yasser Abdelghani, Wael Abdelghany, Safaa M Abdelhalim, Waleed Mhmoud Abdelhamid, Nermin Abdel Hamid Sadik, Nadia A. Abdelkader, Elsayed Abdelkreem, Aly Mohamed Abdelmohsen, Awny Ali Abdelrahman, Sherief Abd‐Elsalam, Doaa Abdeltawab, Abdulbaset Abduh, Nada Abdulhakam, Maheeba Abdulla, Navid Abedpoor, Ludovico Abenavoli, Fredrik Åberg, Omala Ablack, Mostafa Abo elftouh, Yousry Esam-Eldin Abo-Amer, Ashraf Aboubkr, A Mohammed Aboud, Amr M. Abouelnaga, Galal A. Aboufarrag, Ashraf Abou‐Taleb, Leticia Abundis, Gupse Adalı, Enrique Adames, Leon A. Adams, Danjuma Adda, Noor Adel, Nada Adel, Muhammad Adel Sayed, Taiba Jibril Afaa, Nawal Afredj, Gulnara Aghayeva, Alessio Aghemo, Carlos A. Aguilar-Salinas, Golo Ahlenstiel, Walid Ahmady, Wafaa Ahmed, Amira Ahmed, Samah Nasser Ahmed, Heba Mostafa Ahmed, Rasha Ahmed, Elmar Aigner, Mesut Akarsu, Maisam Akroush, Ümit Akyüz, Mamun Al Mahtab, Tahani Al Qadiri, Yusriya Al Rawahi, Razzaq AL rubaee, Muna Al Saffar, Shahinul Alam, Zaid Al-Ani, Agustín Albillos

    Հրապարակվել է 2022
    Ստացեք ամբողջական տեքստը
    Carta
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