Výsledky vyhledávání - Chad R. Haldeman‐Englert

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  1. 1
    Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion

    Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion Autor SA Boyadjiev, S‐D Kim, Akira Hata, Chad R. Haldeman‐Englert, E H Zackai, Cyril Naydenov, S Hamamoto, RW Schekman, Jin Oh Kim

    Vydáno 2010
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  2. 2
    Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

    Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome Autor Sarah R. Poll, Renan Paulo Martin, Elizabeth Wohler, Elizabeth Partan, Elizabeth Walek, Shaima Salman, Daniel Groepper, Lisa E. Kratz, Mirlene Cecília Soares Pinho Cernach, Reynaldo Jesús-García, Chad R. Haldeman‐Englert, Yoon Jae Choi, Carol D. Morris, Bernard A. Cohen, Julie Hoover‐Fong, David Valle, Gregg L. Semenza, Nara L. M. Sobreira

    Vydáno 2022
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  3. 3
    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region Autor Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai, Kate Shane-Carson, Joan Atkin, Alexander Asamoah, R. Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi M. Feldman, William Cohen, Judith Phalin, Berkley R. Powell, B. C. Ballif, Aaron Theisen, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Tamim H. Shaikh, Sulagna C. Saitta, B.A. Bejjani, L.G. Shaffer

    Vydáno 2009
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  4. 4
    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy

    Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy Autor Karina Tuz, Ruxandra Bachmann‐Gagescu, Diana R. O’Day, Kiet Hua, Christine R. Isabella, Ian G. Phelps, Allan E. Stolarski, Brian J. O’Roak, Jennifer C. Dempsey, Charles Marques Lourenço, Abdulrahman Alswaid, Carsten G. Bönnemann, Līvija Medne, Sheela Nampoothiri, Zornitza Stark, Richard J. Leventer, Meral Topçu, Ali Cansu, Sujatha Jagadeesh, Stephen Done, Gisele E. Ishak, Ian Glass, Jay Shendure, Stephan C. F. Neuhauss, Chad R. Haldeman‐Englert, Dan Doherty, Russell J. Ferland

    Vydáno 2013
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  5. 5
    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

    High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications Autor Tamim H. Shaikh, Xiaowu Gai, Juan C. Perín, Joseph Glessner, Hongbo Xie, Kevin J. Murphy, Ryan O'Hara, Tracy Casalunovo, Laura K. Conlin, Monica D’Arcy, Edward C. Frackelton, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Marcin Imieliński, Chong Ae Kim, Līvija Medne, Kiran Annaiah, Jonathan P. Bradfield, Elvira Dabaghyan, Andrew W. Eckert, Chioma C. Onyiah, Svetlana Ostapenko, F. George Otieno, Erin Santa, Julie L. Shaner, Robert Skraban, Ryan M. Smith, Josephine Elia, Elizabeth Goldmuntz, Nancy B. Spinner, Elaine H. Zackai, Rosetta Chiavacci, Robert W. Grundmeier, Eric Rappaport, Struan F.A. Grant, Peter S. White, Hákon Hákonarson

    Vydáno 2009
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  6. 6
    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Autor Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina

    Vydáno 2015
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  7. 7
    A dyadic approach to the delineation of diagnostic entities in clinical genomics

    A dyadic approach to the delineation of diagnostic entities in clinical genomics Autor Leslie G. Biesecker, Margaret P Adam, Fowzan S. Alkuraya, Anne Amemiya, Michael J. Bamshad, Anita Beck, James T. Bennett, Lynne M. Bird, John C. Carey, Brian Hon‐Yin Chung, Robin D. Clark, Timothy C. Cox, Cynthia J. Curry, Mary Beth Dinulos, William B. Dobyns, Philip F. Giampietro, Katta M. Girisha, Ian Glass, John M. Graham, Karen W. Gripp, Chad R. Haldeman‐Englert, Bryan D. Hall, A. Micheil Innes, Jennifer M. Kalish, Kim M. Keppler‐Noreuil, Kenjiro Kosaki, Beth A. Kozel, Ghayda Mirzaa, John J. Mulvihill, Małgorzata J.M. Nowaczyk, Roberta A Pagon, Kyle Retterer, Alan F. Rope, Pedro A. Sanchez‐Lara, Laurie H. Seaver, Joseph T.C. Shieh, Anne Slavotinek, Andrew K. Sobering, Cathy A. Stevens, David A. Stevenson, Tiong Yang Tan, Wen‐Hann Tan, Anne Chun‐Hui Tsai, David D. Weaver, Marc S. Williams, Elaine H. Zackai, Yuri A. Zárate

    Vydáno 2021
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  8. 8
    Microduplications of 16p11.2 are associated with schizophrenia

    Microduplications of 16p11.2 are associated with schizophrenia Autor Shane McCarthy, Vladimir Makarov, George Kirov, Anjené Addington, Jon McClellan, Seungtai Yoon, Diana O. Perkins, Diane E. Dickel, Mary Kusenda, Olga Krastoshevsky, Verena Krause, Ravinesh A. Kumar, Detelina Grozeva, Dheeraj Malhotra, Tom Walsh, Elaine H. Zackai, Paige Kaplan, Jaya Ganesh, Ian D. Krantz, Nancy B. Spinner, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B. Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary, Lilia M. Iakoucheva, Timothy J. Crow, Susan L. Christian, Jeffrey A. Lieberman, T. Scott Stroup, Terho Lehtimäki, Kaija Puura, Chad R. Haldeman‐Englert, Justin Pearl, Meredith Goodell, Virginia L. Willour, Pamela DeRosse, Jo Steele, Layla Kassem, Jessica Wolff, Nisha Chitkara, Francis J. McMahon, Anil K. Malhotra, James B. Potash, Thomas G. Schulze, Markus M. Nöthen, Sven Cichon, Marcella Rietschel, Ellen Leibenluft, Vlad Kustanovich, Clara Lajonchere, James S. Sutcliffe, David Skuse, Michael Gill, Louise Gallagher, Nancy R. Mendell, Nick Craddock, Michael J. Owen, Michael O’Donovan, Tamim H. Shaikh, Ezra Susser, Lynn E. DeLisi, Patrick F. Sullivan, Curtis K. Deutsch, Judith L. Rapoport, Deborah L. Levy, Mary‐Claire King, Jonathan Sebat

    Vydáno 2009
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  9. 9
    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

    De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay Autor Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad R. Haldeman‐Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Małgorzata J.M. Nowaczyk, Jolien S. Klein Wassink‐Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Blue, Marcus Annable, Brian L. Browning, Kati J. Buckingham, Christina Chen, Jennifer Chin, Jessica X. Chong, Gregory M. Cooper, Colleen Davis, Christopher Frazar, Tanya M. Harrell, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Colby T. Marvin, Margaret J. McMillin, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, M. Lázaro Pérez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frédéric Reinier, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Tristan Shaffer, Cindy Shephard, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Jeffrey Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Yi Qian

    Vydáno 2015
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  10. 10
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder Autor 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

    Vydáno 2021
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  11. 11
    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

    Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice Autor Dianalee McKnight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Μ. Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos‐Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman‐Englert, Rebecca J. Levy, Venu Parachuri, Guillermo Lay‐Son, David José Dávila‐Ortiz de Montellano, Miguel Ángel Ramírez-García, Edmar Benitez-Alonso, Julie Ziobro, Adela Chiriţă-Emandi, Têmis Maria Félix, Dianne Kulasa-Luke, André Mégarbané, Shefali Karkare, Sarah Chagnon, Jennifer Humberson, Melissa Assaf, Sebastián Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, О.О. Miroshnikov, Britton Zuccarelli, Louise Amlie‐Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan Candee, Caleb Bupp, Kristen Park, Eric Muller, Pamela J. Lupo, Robert C. Pedersen, Amir Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa Kellogg, Evelyn G. Lora, Robert P. Carson, V.O. Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, T. Stetsenko, Milagros Dueñas, Joseph Trasmonte, Rebecca Burke, Anna Hurst, Douglas M. Smith, Lauren Massingham, Laura Rosa Pisani, Carrie E. Costin, Betsy Ostrander, Francis Filloux, Amitha Ananth, Ismail Mohamed, Alla Nechai, Jasmin M. Dao, Michael Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela M. Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha

    Vydáno 2022
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