Результати пошуку - Farah Zahir

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  1. 1
    Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action

    Epigenetic Impacts on Neurodevelopment: Pathophysiological Mechanisms and Genetic Modes of Action за авторством Farah Zahir, Carolyn J. Brown

    Опубліковано 2011
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  2. 2
    Vertebral body tethering for idiopathic scoliosis: a systematic review and meta-analysis

    Vertebral body tethering for idiopathic scoliosis: a systematic review and meta-analysis за авторством M. Roser, Geoffrey N. Askin, Robert D. Labrom, Syeda Farah Zahir, Maree T. Izatt, J. Paige Little

    Опубліковано 2023
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  3. 3
    Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

    Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children за авторством Farah Zahir, Helen V. Firth, Ágnes Baross, Allen Delaney, Patrice Eydoux, William T. Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A. Marra, Jan M. Friedman

    Опубліковано 2007
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  4. 4
    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

    Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway за авторством Gregory M. Enns, Vandana Shashi, Matthew N. Bainbridge, Michael J. Gambello, Farah Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox, Jonathan A. Bernstein, Mena Scavina, Rhonda S. Walter, Audrey Bibb, Melanie A. Jones, Madhuri Hegde, Brett H. Graham, Anna C. Need, Angélica Oviedo, Christian P. Schaaf, Seán Boyle, Atul J. Butte, Rong Chen, Michael J. Clark, Rajini Haraksingh, Tina M. Cowan, Ping He, Sylvie Langlois, Huda Y. Zoghbi, M Snyder, Richard A. Gibbs, Hudson H. Freeze, David B. Goldstein

    Опубліковано 2014
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  5. 5
    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

    Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation за авторством Jan M. Friedman, Ágnes Baross, Allen Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Dione K. Bailey, Sarah Barber, Patricia Birch, Mabel Brown-John, Manqiu Cao, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stéphane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Steven J.M. Jones, Giulia C. Kennedy, Martin Krzywinski, Sylvie Langlois, Haiyan I. Li, Barbara McGillivray, Tarun Nayar, Trevor J. Pugh, Evica Rajcan‐Separovic, Jacqueline E. Schein, Angelique Schnerch, Asim Siddiqui, Margot I. Van Allen, Gary M. Wilson, Siu‐Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra

    Опубліковано 2006
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  6. 6
    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

    ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder за авторством Sara Cuvertino, Helen M. Stuart, Kate Chandler, Neil Roberts, Ruth Armstrong, Laura Bernardini, Sanjeev S. Bhaskar, Bert Callewaert, Jill Clayton‐Smith, Cristina Hernando Davalillo, Charu Deshpande, Koenraad Devriendt, M. Cristina Digilio, Abhijit Dixit, Matthew Edwards, Jan M. Friedman, Antonio González‐Meneses, Shelagh Joss, Bronwyn Kerr, Anne Katrin Lampe, Sylvie Langlois, Rachel Lennon, Philippe Loget, David Y.T., Ruth McGowan, Maryse Des Medt, James D.B. O’Sullivan, Sylvie Odent, Michael Parker, Céline Pebrel‐Richard, Florence Petit, Zornitza Stark, Sylvia Stöckler‐Ipsiroglu, Sigrid Tinschert, Pradeep Vasudevan, Olaya Villa, Susan M. White, Farah Zahir, Adrian S. Woolf, Siddharth Banka

    Опубліковано 2017
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  7. 7
    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care за авторством Sarah L. Sawyer, Taila Hartley, David A. Dyment, Chandree L. Beaulieu, Jeremy Schwartzentruber, Amanda Smith, H. Melanie Bedford, Geneviève Bernard, François Bernier, Bernard Brais, Dennis E. Bulman, Jodi Warman‐Chardon, David Chitayat, Johnny Deladoëy, Bridget A. Fernandez, Patrick Frosk, Michael T. Geraghty, Brenda Gerull, William T. Gibson, Robert M. Gow, Gail E. Graham, Jane S. Green, Elise Héon, Gabriella Horváth, A. Micheil Innes, Nada Jabado, Raymond H. Kim, R. K. Koenekoop, Aneal Khan, Ordan J. Lehmann, Roberto Mendoza‐Londono, Jacques L. Michaud, Sarah M. Nikkel, Lynette S. Penney, Constantin Polychronakos, Julie Richer, Guy A. Rouleau, Mark E. Samuels, Victoria Mok Siu, Oksana Suchowersky, Mark A. Tarnopolsky, Grace Yoon, Farah Zahir, Jacek Majewski, Kym M. Boycott

    Опубліковано 2015
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  8. 8
    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

    MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis за авторством Christopher Chun Yu Mak, Dan Doherty, Angela E. Lin, Nancy Végas, Megan T. Cho, Géraldine Viot, Clémantine Dimartino, James D. Weisfeld‐Adams, Davor Lessel, Shelagh Joss, Chumei Li, Claudia Gonzaga‐Jauregui, Yuri A. Zárate, Nadja Ehmke, Denise Horn, Caitlin Troyer, Sarina G. Kant, Youngha Lee, Gisele E. Ishak, Gordon Leung, Amanda Barone Pritchard, Sandra Yang, Eric G. Bend, Francesca Filippini, Chelsea Roadhouse, Nicolas Lebrun, Michele G. Mehaffey, Pierre‐Marie Martin, Benjamin J. Apple, Francisca Millan, Oliver Puk, Mariëtte J.V. Hoffer, Lindsay B. Henderson, Ruth McGowan, Ingrid M. Wentzensen, Steven Lim Cho Pei, Farah Zahir, Mullin H.C. Yu, William T. Gibson, Ann Seman, Marcie Steeves, Jill R. Murrell, Sabine Luettgen, E. Nicolás Francisco, Tim M. Strom, Louise Amlie‐Wolf, Angela M. Kaindl, William G. Wilson, Sara Halbach, Lina Basel‐Vanagaite, Noa Lev-El, Jonas Denecke, Lisenka E.L.M. Vissers, Kelly Radtke, Jamel Chelly, Elaine H. Zackai, Jan M. Friedman, Michael J. Bamshad, Deborah A. Nickerson, Russell R. Reid, Koenraad Devriendt, Jong‐Hee Chae, Elliot Stolerman, Carey McDougall, Zöe Powis, Thierry Bienvenu, Tiong Yang Tan, Naama Orenstein, William B. Dobyns, Joseph T.C. Shieh, Murim Choi, Darrel Waggoner, Karen W. Gripp, Michael Parker, Joan M. Stoler, Stanislas Lyonnet, Valérie Cormier‐Daire, David Viskochil, Trevor L. Hoffman, Jeanne Amiel, Brian Hon‐Yin Chung, Christopher T. Gordon

    Опубліковано 2019
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