Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gramm, Marie"'
Autor:
Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony
Publikováno v:
In The American Journal of Human Genetics 4 August 2022 109(8):1353-1365
Autor:
Brunklaus, Andreas, Leu, Costin, Gramm, Marie, Pérez-Palma, Eduardo, Iqbal, Sumaiya, Lal, Dennis
Publikováno v:
In European Journal of Paediatric Neurology January 2020 24:35-39
Akademický článek
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Akademický článek
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Autor:
Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y, Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C, High, Frances A, Sweetser, David A, Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E, Yang, Edward, Waugh, Jeff L, Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gre-Gory M, Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Friedman, Noah D, Gahl, William A, Glanton, Emily, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gould, Sarah E, Gourdine, Jean-Philippe F, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Francis, Holm, Ingrid A, Horn, Jason, Howerton, Ellen M, Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M, Jones, Angela L, Karaviti, Lefkothea, Koeller, David M, Kohane, Isaac S, Kohler, Jennefer N, Konick, Susan, Koziura, Mary, Krasnewich, Donna M, Krier, Joel B, Kyle, Jennifer E, Lalani, Seema R, Lau, C Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H, Lee, Hane, Levy, Shawn E, Lewis, Richard A, Lincoln, Sharyn A, Loo, Sandra K, Loscalzo, Joseph, Maas, Richard L, Macnamara, Ellen F, MacRae, Calum A, Maduro, Valerie V, Majch-erska, Marta M, Malicdan, May Christine, Mamounas, Laura A, Manolio, Teri A, Markello, Thomas C, Marom, Ronit, Martin, Martin G, Martinez-Agosto, Julian A, Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E, McCray, Alexa F, Merker, Jason D, Metz, Thomas O, Might, Matthew, Moretti, Paolo M, Morimoto, Marie, Mulvihill, John J, Murdock, David R, Murphy, Jennifer L, Muzny, Donna M, Nehrebecky, Michele E, Nelson, Stan F, Newberry, J Scott, Newman, John H, Nicholas, Sarah K, Novacic, Donna, Orange, Jordan S, Orengo, James P, Pallais, J Carl, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Pena, Loren DM, Phillips, John A, Posey, Jennifer E, Postlethwait, John H, Potocki, Lorraine, Pusey, Barbara N, Reuter, Chloe M, Rives, Lynette, Robertson, Amy K, Rodan, Lance H, Rosenfeld, Jill A, Sampson, Jacinda B, Samson, Susan L, Schoch, Kelly, Scott, Daryl A, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K, Sinsheimer, Janet S, Smith, Kevin S, Spillmann, Rebecca C, Stoler, Joan M, Stong, Nicholas, Sullivan, Jennifer A, Tan, Queenie K-G, Tifft, Cynthia J, Toro, Camilo, Tran, Alyssa A, Urv, Tiina K, Vilain, Eric, Vogel, Tiphanie P, Waggott, Daryl M, Wahl, Colleen E, Walker, Melissa, Walley, Nicole M, Walsh, Chris A, Wan, Jijun, Wangler, Michael F, Ward, Patricia A, Waters, Katrina M, Webb-Robertson, Bobbie-Jo M, Westerfield, Monte, Wheeler, Matthew T, Wise, Anastasia L, Wolfe, Lynne A, Worthey, Elizabeth A, Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J, Yu, Guoyun, Zastrow, Diane B, Zhao, Chunli, Zheng, Allison
Publikováno v:
Epilepsia, vol 60, iss 3
Epilepsia
Volume 60
Issue 3
Epilepsia
Volume 60
Issue 3
OBJECTIVE: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships. METHODS: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c1b69e09098a81f728c426e3ae47d2d
https://escholarship.org/uc/item/5mv7d47m
https://escholarship.org/uc/item/5mv7d47m
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kelly M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Dartmouth Medical School, Hanover, New Hampshire., Park M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Mihalek I; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Rochtus A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Gramm M; Cologne Center for Genomics, Cologne, Germany., Pérez-Palma E; Cologne Center for Genomics, Cologne, Germany., Axeen ET; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, University of Virginia, Charlottesville, Virginia., Hung CY; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Olson H; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts., Swanson L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Anselm I; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Briere LC; Department of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts., High FA; Department of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts., Sweetser DA; Department of Medical Genetics, Massachusetts General Hospital, Boston, Massachusetts., Kayani S; Department of Pediatrics, Neurology, and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas., Snyder M; Department of Neurology, Children's Health, Dallas, Texas., Calvert S; Neuroscience Department, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia., Scheffer IE; Florey and Murdoch Children's Research Institute, Austin Health and Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia., Yang E; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts.; Department of Radiology, Harvard Medical School, Boston, Massachusetts., Waugh JL; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Department of Pediatrics, University of Texas Southwestern, Dallas, Texas., Lal D; Cologne Center for Genomics, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute, Cambridge, Massachusetts.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts., Bodamer O; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts.; Department of Neurology, Harvard Medical School, Boston, Massachusetts.; Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, Massachusetts.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
Publikováno v:
Epilepsia [Epilepsia] 2019 Mar; Vol. 60 (3), pp. 406-418. Date of Electronic Publication: 2019 Jan 25.