نتائج البحث - Thomas D. Challman

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  1. 1
    Methylphenidate: Its Pharmacology and Uses

    Methylphenidate: Its Pharmacology and Uses حسب Thomas D. Challman, James J. Lipsky

    منشور في 2000
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  2. 2
    Methylphenidate: Its Pharmacology and Uses

    Methylphenidate: Its Pharmacology and Uses حسب Thomas D. Challman, James J. Lipsky

    منشور في 2000
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    Artigo
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  3. 3
    Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders

    Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders حسب Brenda Finucane, Thomas D. Challman, Christa Lese Martin, David H. Ledbetter

    منشور في 2015
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  4. 4
    Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

    Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence حسب Andrés Moreno-De-Luca, Scott M. Myers, Thomas D. Challman, Daniel Moreno‐De‐Luca, David W. Evans, David H. Ledbetter

    منشور في 2013
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  5. 5
    Insufficient Evidence for “Autism-Specific” Genes

    Insufficient Evidence for “Autism-Specific” Genes حسب Scott M. Myers, Thomas D. Challman, Raphael Bernier, Thomas Bourgeron, Wendy K. Chung, John N. Constantino, Evan E. Eichler, Sébastien Jacquemont, David T. Miller, Kevin J. Mitchell, Huda Y. Zoghbi, Christa Lese Martin, David H. Ledbetter

    منشور في 2020
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  6. 6
    A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome

    A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome حسب Elizabeth Berry‐Kravis, Joseph P. Horrigan, Nicole Tartaglia, Randi J. Hagerman, Alexander Kolevzon, Craig A. Erickson, Shivkumar Hatti, Mike Snape, Alex Yaroshinsky, George Stoms, Larry Glass, Nancy E. Jones, Kevin Sanders, Jean A. Frazier, Thomas D. Challman, Jeffrey W. Innis, Bryan King, Joseph F. Cubells, Jeannie Visootsak, Steven A. Skinner, Dianne Treadwell-Deering, Sherry Vinson, Howard Needelman

    منشور في 2020
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  7. 7
    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

    De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females حسب Elizabeth E. Palmer, Till Stuhlmann, Stefanie Weinert, Eric Haan, Hilde Van Esch, Maureen Holvoet, Jackie Boyle, Melanie Leffler, Martine Raynaud, Claude Moraine, Hans van Bokhoven, Tjitske Kleefstra, Kimia Kahrizi, Hossein Najmabadi, H‐H Ropers, Mauricio R. Delgado, Deepa Sirsi, Sailaja Golla, Annemarie Sommer, Marguerite Pietryga, Wendy K. Chung, Julia Wynn, Luis Rohena, Erika Bernardo, Damara R. Hamlin, Brian M. Faux, Dorothy K. Grange, Linda Manwaring, John Tolmie, Shelagh Joss, Jan M. Cobben, Floor A.M. Duijkers, Jessica Goehringer, Thomas D. Challman, Friederike Hennig, Utz Fischer, Acadia L. Grimme, Vanessa Suckow, Luciana Musante, J. Nicholl, M Shaw, Suhrid Lodh, Zhiyv Niu, Jill A. Rosenfeld, Paweł Stankiewicz, Thomas J. Jentsch, Jozef Gécz, Michael Field, Vera M. Kalscheuer

    منشور في 2016
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  8. 8
    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>

    Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <sc... حسب Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, María J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogné, Samantha A. Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S. Cohen, Katheryn Grand, Dayna Morel Swols, Anne Slavotinek, Hessa F. Albassam, Swati Naik, John Dean, Nicola Ragge, Cinzia Costa, Maria Giovanna Tedesco, Rachel Harrison, Arjan Bouman, Emily Palen, Thomas D. Challman, Marjolein H. Willemsen, Julie Vogt, Christopher Cunniff, Katherine Bergstrom, Jagdeep S. Walia, Ange‐Line Bruel, Usha Kini, Fowzan S. Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Natale Girotto, Diana Johnson, Ruth Newbury‐Ecob, Charlotte W. Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M. Graham, Tyler Mark Pierson, Meena Balasubramanian

    منشور في 2021
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  9. 9
    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

    Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease حسب Daniel G. Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M. Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V. Hunter, Amanda Gerard, Alexis R. Heidlebaugh, Thomas D. Challman, Rebecca C. Spillmann, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Seema R. Lalani, Lingxiao Liu, Anya Revah‐Politi, Alejandro Iglesias, Edwin R. Guzman, Evan H. Baugh, Nathalie Boddaert, Sophie Rondeau, Clothide Ormieres, Giulia Barcia, Queenie K.‐G. Tan, Isabelle Thiffault, Tomi Pastinen, Kazim A. Sheikh, Suur Biliciler, Davide Mei, Federico Melani, Vandana Shashi, Yuval Yaron, Mary Steele, Emma Wakeling, Elsebet Østergaard, Lusine Nazaryan‐Petersen, Francisca Millan, Teresa Santiago‐Sim, Julien Thévenon, Ange‐Line Bruel, Christel Thauvin‐Robinet, Denny Popp, Konrad Platzer, Paweł Gawliński, Wojciech Wiszniewski, Dana Marafi, Davut Pehli̇van, Jennifer E. Posey, Richard A. Gibbs, Valérie Gailus‐Durner, Renzo Guerrini, Helmut Fuchs, Martin Hrabě de Angelis, Sabine M. Hölter, Hoi‐Hung Cheung, Shen Gu, James R. Lupski

    منشور في 2023
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  10. 10
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder حسب Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    منشور في 2021
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  11. 11
    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations حسب Dervla M. Connaughton, Rufeng Dai, Danielle Owen, Jonathan Marquez, Nina Mann, Adda L. Graham-Paquin, Makiko Nakayama, Étienne Coyaud, Estelle Laurent, Jonathan St‐Germain, Lot Snijders Blok, Arianna Vino, Verena Klämbt, Konstantin Deutsch, Chen-Han Wilfred Wu, Caroline M. Kolvenbach, Franziska Kause, Isabel Ottlewski, Ronen Schneider, Thomas M. Kitzler, Amar J. Majmundar, Florian Buerger, Ana C. Onuchic-Whitford, Youying Mao, Amy Kolb, Daanya Salmanullah, Evan Chen, Amelie T. van der Ven, Jia Rao, Hadas Ityel, Steve Seltzsam, Johanna M. Rieke, Jing Chen, Asaf Vivante, Daw‐Yang Hwang, Stefan Kohl, Gabriel C. Dworschak, Tobias Hermle, Mariëlle Alders, Tobias Bartolomaeus, Stuart B. Bauer, Michelle A. Baum, Eva H. Brilstra, Thomas D. Challman, Jacob Zyskind, Carrie E. Costin, Katrina M. Dipple, Floor A.M. Duijkers, Marcia Ferguson, David Fitzpatrick, Roger Fick, Ian Glass, Peter J. Hulick, Antonie D. Kline, Ilona Krey, Selvin Kumar, Lu W, Elysa J. Marco, Ingrid M. Wentzensen, Heather C. Mefford, Konrad Platzer, Inna Povolotskaya, Juliann M. Savatt, Н. В. Щербакова, Prabha Senguttuvan, Audrey Squire, Deborah R. Stein, Isabelle Thiffault, V. Yu. Voinova, Michael J. Somers, Michael A. Ferguson, Avram Z. Traum, Ghaleb H. Daouk, Ankana Daga, Nancy Rodig, Paulien A. Terhal, Ellen van Binsbergen, Loai Eid, Velibor Tasić, Hila Milo Rasouly, Tze Y. Lim, Dina Ahram, Ali G. Gharavi, Heiko Reutter, Heidi L. Rehm, Daniel G. MacArthur, Monkol Lek, Kristen M. Laricchia, Richard P. Lifton, Hong Xu, Shrikant Mane, Simone Sanna‐Cherchi, Andrew D. Sharrocks, Brian Raught, Simon E. Fisher, Maxime Bouchard, Mustafa K. Khokha, Shirlee Shril, Friedhelm Hildebrandt

    منشور في 2020
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