학술논문
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'학술논문'
에서 검색결과 60건 | 목록
1~20
Academic Journal
Zoë J. Frazier; Seyda Kilic; Hailey Osika; Alisa Mo; Meg Quinn; Sonia Ballal; Tamar Katz; A. Eliot Shearer; Max A. Horlbeck; Lynn S. Pais; Kira A. Dies; Anne O'Donnell‐Luria; Joe Kossowsky; Jonathan O. Lipton; Tjitske Kleefstra; Siddharth Srivastava
Clinical Genetics, 107, 6, pp. 636-645
Academic Journal
Allyson E. Koyen; Matthew Z. Madden; Dongkyoo Park; Elizabeth V. Minten; Priya Kapoor-Vazirani; Erica Werner; Neil T. Pfister; Ramona Haji-Seyed-Javadi; Hui Zhang; Jie Xu; Nikita Deng; Duc M. Duong; Turner J. Pecen; Zoë Frazier; Zachary D. Nagel; Jean-Bernard Lazaro; Kent W. Mouw; Nicholas T. Seyfried; Carlos S. Moreno; Taofeek K. Owonikoko; Xingming Deng; David S. Yu
Oncogene. 44:928-930
Academic Journal
Birk Möller; Lena-Luise Becker; Afshin Saffari; Alexandra Afenjar; Emanuele G Coci; Rachel Williamson; Catherine Ward-Melver; Marc Gibaud; Lucie Sedláčková; Petra Laššuthová; Zuzana Libá; Markéta Vlčková; Nancy William; Eric W Klee; Ralitza H Gavrilova; Jonathan Lévy; Yline Capri; Mena Scavina; Robert Walter Körner; Zaheer Valivullah; Claudia Weiß; Greta Marit Möller; Zoë Frazier; Amy Roberts; Blanca Gener; Marcello Scala; Pasquale Striano; Federico Zara; Moritz Thiel; Margje Sinnema; Erik-Jan Kamsteeg; Sandra Donkervoort; Veronique Duboc; Khaoula Zaafrane-Khachnaoui; Nour Elkhateeb; Laila Selim; Henri Margot; Victor Marin; Claire Beneteau; Bertrand Isidor; Benjamin Cogne; Boris Keren; Benno Küsters; Alan H Beggs; Abigail Sveden; Maya Chopra; Casie A Genetti; Joost Nicolai; Jörg Dötsch; Anne Koy; Carsten G Bönnemann; Maja von der Hagen; Jürgen-Christoph von Kleist-Retzow; Nicol C Voermans; Heinz Jungbluth; Hormos Salimi Dafsari
Brain
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M,Frazier , Z, Roberts, A, Gener, B, Scala, M, Striano, P, Zara, F, Thiel, M, Sinnema, M, Kamsteeg, E J, Donkervoort, S, Duboc, V, Zaafrane-Khachnaoui, K, Elkhateeb, N, Selim, L, Margot, H, Marin, V, Beneteau, C, Isidor, B, Cogne, B, Keren, B, Küsters, B, Beggs, A H, Sveden, A, Chopra, M, Genetti, C A, Nicolai, J, Dötsch, J, Koy, A, Bönnemann, C G, von der Hagen, M, von Kleist-Retzow, J C, Voermans, N C, Jungbluth, H & Dafsari, H S 2025, 'The expanding clinical and genetic spectrum of DYNC1H1-related disorders', Brain, vol. 148, no. 2, pp. 597-612. https://doi.org/10.1093/brain/awae183
Brain, 148, 2, pp. 597-612
Möller, B, Becker, L L, Saffari, A, Afenjar, A, Coci, E G, Williamson, R, Ward-Melver, C, Gibaud, M, Sedláčková, L, Laššuthová, P, Libá, Z, Vlčková, M, William, N, Klee, E W, Gavrilova, R H, Lévy, J, Capri, Y, Scavina, M, Körner, R W, Valivullah, Z, Weiß, C, Möller, G M,
Academic Journal
Alexandra Santana Almansa; Dustin L. Gable; Zoë Frazier; Abigail Sveden; Aisling Quinlan; Maya Chopra; Sara A. Lewis; Michael Kruer; Annapurna Poduri; Siddharth Srivastava
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 251-262 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 2, Pp 251-262 (2024)
Academic Journal
Qebibo, Leila ; Davakan, Amaël ; Nesson-Dauphin, Mathilde ; Boulali, Najlae ; Siquier-Pernet, Karine ; Afenjar, Alexandra ; Amiel, Jeanne ; Bartholdi, Deborah ; Barth, Magalie ; Blondiaux, Eléonore ; Cristian, Ingrid ; Frazier, Zoe ; Goldenberg, Alice ; Good, Jean-Marc ; Salussolia, Catherine Lourdes ; Sahin, Mustafa ; McCullagh, Helen ; McDonald, Kimberly ; McRae, Anne ; Morrison, Jennifer ; Pinner, Jason ; Shinawi, Marwan ; Toutain, Annick ; Vyhnálková, Emílie ; Wheeler, Patricia G. ; Wilnai, Yael ; Hausman-Kedem, Moran ; Coolen, Marion ; Cantagrel, Vincent ; Burglen, Lydie ; Lory, Philippe
In Genetics in Medicine March 2025 27(3)
Academic Journal
Yue, Shanna L.; Pillai, Rajapillai L. I.; Frazier, Zoe; Osika, Hailey; Quinn, Meg; O'toole, Jillian; Heslin, Brynn; Zhang, Bo; Dies, Kira A.; Pais, Lynn; O'donnell-luria, Anne; Horlbeck, Max A.; Kossowsky, Joe; Lipton, Jonathan; Srivastava, Siddharth
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S,Frazier , Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S,
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi ; Levy, Michael ; Dingemans, Alexander J.M. ; de Vries, Bert B.A. ; Ruiterkamp-Versteeg, Martina ; de Leeuw, Nicole ; Ockeloen, Charlotte W. ; Pfundt, Rolph ; de Boer, Elke ; Kummeling, Joost ; van Bon, Bregje ; van Bokhoven, Hans ; Kasri, Nael Nadif ; Venselaar, Hanka ; Alders, Marielle ; Kerkhof, Jennifer ; McConkey, Haley ; Kuechler, Alma ; Elffers, Bart ; van Beeck Calkoen, Rixje ; Hofman, Susanna ; Smith, Audrey ; Valenzuela, Maria Irene ; Srivastava, Siddharth ; Frazier, Zoe ; Maystadt, Isabelle ; Piscopo, Carmelo ; Merla, Giuseppe ; Balasubramanian, Meena ; Santen, Gijs W.E. ; Metcalfe, Kay ; Park, Soo-Mi ; Pasquier, Laurent ; Banka, Siddharth ; Donnai, Dian ; Weisberg, Daniel ; Strobl-Wildemann, Gertrud ; Wagemans, Annemieke ; Vreeburg, Maaike ; Baralle, Diana ; Foulds, Nicola ; Scurr, Ingrid ; Brunetti-Pierri, Nicola ; van Hagen, Johanna M. ; Bijlsma, Emilia K. ; Hakonen, Anna H. ; Courage, Carolina ; Genevieve, David ; Pinson, Lucile ; Forzano, Francesca ; Deshpande, Charu ; Kluskens, Maria L. ; Welling, Lindsey ; Plomp, Astrid S. ; Vanhoutte, Els K. ; Kalsner, Louisa ; Hol, Janna A. ; Putoux, Audrey ; Lazier, Johanna ; Vasudevan, Pradeep ; Ames, Elizabeth ; O'Shea, Jessica ; Lederer, Damien ; Fleischer, Julie ; O'Connor, Mary ; Pauly, Melissa ; Vasileiou, Georgia ; Reis, André ; Kiraly-Borri, Catherine ; Bouman, Arjan ; Barnett, Chris ; Nezarati, Marjan ; Borch, Lauren ; Beunders, Gea ; Özcan, Kübra ; Miot, Stéphanie ; Volker-Touw, Catharina M.L. ; van Gassen, Koen L.I. ; Cappuccio, Gerarda ; Janssens, Katrien ; Mor, Nofar ; Shomer, Inna ; Dominissini, Dan ; Tedder, Matthew L. ; Muir, Alison M. ; Sadikovic, Bekim ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Shinkai, Yoichi ; Kleefstra, Tjitske
In The American Journal of Human Genetics 8 August 2024 111(8):1605-1625
Academic Journal
Isabel Haviland; Ralph D. Hector; Lindsay C. Swanson; Aubrie Soucy Verran; Emma Sherrill; Zoë Frazier; AnneMarie M. Denny; Jenna Lucash; Bo Zhang; Holly A. Dubbs; Eric D. Marsh; Judith L. Weisenberg; Helen Leonard; Milena Crippa; Francesca Cogliati; Silvia Russo; Bernhard Suter; Rajsekar Rajaraman; Alan K. Percy; John M. Schreiber; Scott Demarest; Timothy A. Benke; Maya Chopra; Timothy W. Yu; Heather E. Olson
American Journal of Medical Genetics Part A. 197
Academic Journal
Judit Börcsök; Zsofia Sztupinszki; Raie Bekele; Sizhi P. Gao; Miklos Diossy; Amruta S. Samant; Kasia M. Dillon; Viktoria Tisza; Sándor Spisák; Orsolya Rusz; Istvan Csabai; Helle Pappot; Zoë J. Frazier; David J. Konieczkowski; David Liu; Naresh Vasani; James A. Rodrigues; David B. Solit; Jean H. Hoffman-Censits; Elizabeth R. Plimack; Jonathan E. Rosenberg; Jean-Bernard Lazaro; Mary-Ellen Taplin; Gopa Iyer; Søren Brunak; Rita Lozsa; Eliezer M. Van Allen; Dávid Szüts; Kent W. Mouw; Zoltan Szallasi
Clinical Cancer Research. 27:2011-2022
Academic Journal
Allyson E. Koyen; Matthew Z. Madden; Dongkyoo Park; Elizabeth V. Minten; Priya Kapoor-Vazirani; Erica Werner; Neil T. Pfister; Ramona Haji-Seyed-Javadi; Hui Zhang; Jie Xu; Nikita Deng; Duc M. Duong; Turner J. Pecen; Zoë Frazier; Zachary D. Nagel; Jean-Bernard Lazaro; Kent W. Mouw; Nicholas T. Seyfried; Carlos S. Moreno; Taofeek K. Owonikoko; Xingming Deng; David S. Yu
Oncogene
Academic Journal
Zoltan Szallasi; Kent W. Mouw; Dávid Szüts; Eliezer M. Van Allen; Rita Lozsa; Søren Brunak; Gopa Iyer; Mary-Ellen Taplin; Jean-Bernard Lazaro; Jonathan E. Rosenberg; Elizabeth R. Plimack; Jean H. Hoffman-Censits; David B. Solit; James A. Rodrigues; Naresh Vasani; David Liu; David J. Konieczkowski; Zoë J. Frazier; Helle Pappot; Istvan Csabai; Orsolya Rusz; Sándor Spisák; Viktoria Tisza; Kasia M. Dillon; Amruta S. Samant; Miklos Diossy; Sizhi P. Gao; Raie Bekele; Zsofia Sztupinszki; Judit Börcsök
Academic Journal
Kent W. Mouw; Gopa Iyer; Eliezer M. Van Allen; Nadeem Riaz; Alan D. D'Andrea; Jonathan E. Rosenberg; Dean Bajorin; David B. Solit; Jean-Bernard Lazaro; Elizabeth R. Plimack; Joaquim Bellmunt; Philip H. Abbosh; Jennifer Ma; S. Paul Gao; Emmet J. Jordan; Huiyong Zhao; Andrew Bell; Atanas Kamburov; Elizaveta Reznichenko; David Liu; Zoë Frazier; Alexis W. Damish; Qiang Li
Academic Journal
Kent W. Mouw; Gopa Iyer; Eliezer M. Van Allen; Nadeem Riaz; Alan D. D'Andrea; Jonathan E. Rosenberg; Dean Bajorin; David B. Solit; Jean-Bernard Lazaro; Elizabeth R. Plimack; Joaquim Bellmunt; Philip H. Abbosh; Jennifer Ma; S. Paul Gao; Emmet J. Jordan; Huiyong Zhao; Andrew Bell; Atanas Kamburov; Elizaveta Reznichenko; David Liu; Zoë Frazier; Alexis W. Damish; Qiang Li
Academic Journal
Kent W. Mouw; Gopa Iyer; Eliezer M. Van Allen; Nadeem Riaz; Alan D. D'Andrea; Jonathan E. Rosenberg; Dean Bajorin; David B. Solit; Jean-Bernard Lazaro; Elizabeth R. Plimack; Joaquim Bellmunt; Philip H. Abbosh; Jennifer Ma; S. Paul Gao; Emmet J. Jordan; Huiyong Zhao; Andrew Bell; Atanas Kamburov; Elizaveta Reznichenko; David Liu; Zoë Frazier; Alexis W. Damish; Qiang Li
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea Weiss; Christina Gurnett; Anne Marie Jelsig; Susanne Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair Pagnamenta; Simone Race; Siddharth Srivast; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda Reis; Elena Semina; Miriam Reuter; Stephen Scherer; Maria Iascone; Denisa Weis; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias Haack; Despina Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas Janecke; Johannes Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Academic Journal
Rajkumar-Calkins, Anne S. ; Szalat, Raphael ; Dreze, Matija ; Khan, Iman ; Frazier, Zoë ; Reznichenkov, Elizaveta ; Schnorenberg, Mathew R. ; Tsai, Yi-Fang ; Nguyen, Huy ; Kochupurakkal, Bose ; D’Andrea, Alan D ; Shapiro, Geoffrey I ; Lazaro, Jean-Bernard ; Mouw, Kent W
In DNA Repair October 2019 82
Academic Journal
Qiang Li; Alexis W. Damish; Zoë Frazier; David Liu; Elizaveta Reznichenko; Atanas Kamburov; Andrew Bell; Huiyong Zhao; Emmet J. Jordan; S. Paul Gao; Jennifer Ma; Philip H. Abbosh; Joaquim Bellmunt; Elizabeth R. Plimack; Jean-Bernard Lazaro; David B. Solit; Dean Bajorin; Jonathan E. Rosenberg; Alan D. D'Andrea; Nadeem Riaz; Eliezer M. Van Allen; Gopa Iyer; Kent W. Mouw
Clinical Cancer Research. 25:977-988
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[검색어] Frazier, Zoë
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