检索结果 - Ricardo Harripaul

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  1. 1
    The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability

    The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability 由 Ricardo Harripaul, Abdul Noor, Muhammad Ayub, John B. Vincent

    出版 2017
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  2. 2
    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

    Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features 由 Anide Johansen, Rasim Özgür Rosti, Damir Musaev, Evan Sticca, Ricardo Harripaul, Maha S. Zaki, Ahmet Okay Çağlayan, Matloob Azam, Tipu Sultan, Tawfiq Froukh, André Reis, Bernt Popp, Iltaf Ahmed, Peter John, Muhammad Ayub, Tawfeg Ben‐Omran, John B. Vincent, Joseph G. Gleeson, Rami Abou Jamra

    出版 2016
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    Artigo
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  3. 3
    Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

    Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability 由 Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, A. Hussain, Asif Mir, Omar Islam, Katta M. Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Z. Braun, Irmina García-Carpio, Andreas Villunger, John B. Vincent

    出版 2021
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    Artigo
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  4. 4
    Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families

    Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families 由 Ricardo Harripaul, Nasim Vasli, А. О. Михайлов, Muhammad Rafiq, Kirti Mittal, Christian Windpassinger, Taimoor I. Sheikh, Abdul Noor, Hina Mahmood, Samantha I Downey, Maneesha Johnson, Kayla Vleuten, Lauren Bell, Muhammad Ilyas, Falak Sher Khan, Valeed Khan, Mohammad Moradi, M. Ayaz, Farooq Naeem, Asieh Heidari, Iqra I. Ahmed, Shirin Ghadami, Zehra Agha, Sirous Zeinali, Raheel Qamar, Hossein Mozhdehipanah, Peter John, Asif Mir, Muhammad Ansar, Leon French, Muhammad Ayub, John B. Vincent

    出版 2017
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  5. 5
    The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

    The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations 由 Anita Villani, Scott Davidson, Nisha Kanwar, Winnie Lo, Yisu Li, Sarah Cohen‐Gogo, Fabio Fuligni, Lisa-Monique Edward, Nicholas Light, Mehdi Layeghifard, Ricardo Harripaul, Larissa Waldman, Bailey Gallinger, Federico Comitani, Ledia Brunga, Reid Hayes, Nathaniel D. Anderson, Arun Ramani, Kyoko E. Yuki, Sasha Blay, Brittney Johnstone, Cara Inglese, Rawan Hammad, Catherine Goudie, Andrew Y. Shuen, Jonathan D. Wasserman, Rosemarie E. Venier, Marianne Eliou, Miranda Lorenti, Carol Ann Ryan, Michael Braga, Meagan Gloven-Brown, Jianan Han, P. Montero, Famida Spatare, James A. Whitlock, Stephen W. Scherer, Kathy Chun, Martin J. Somerville, Cynthia Hawkins, Mohamed Abdelhaleem, Vijay Ramaswamy, Gino R. Somers, Lianna Kyriakopoulou, Johann Hitzler, Mary Shago, Daniel A. Morgenstern, Uri Tabori, M. Stephen Meyn, Meredith S. Irwin, David Malkin, Adam Shlien

    出版 2022
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    Artigo
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  6. 6
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects 由 Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    出版 2020
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    Artigo
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