학술논문
'학술논문'
에서 검색결과 6건 | 목록
1~10
Academic Journal
Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Genomics, Task Force for Neonatal; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D
American Journal of Human Genetics. 103(5)
Electronic Resource
Genetica Klinische Genetica; Brain; Child Health; Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A
Electronic Resource
Oppermann, Henry; Marcos-Grañeda, Elia; Weiss, Linnea A; Gurnett, Christina A; Jelsig, Anne Marie; Vineke, Susanne H; Isidor, Bertrand; Mercier, Sandra; Magnussen, Kari; Zacher, Pia; Hashim, Mona; Pagnamenta, Alistair T; Race, Simone; Srivastava, Siddharth; Frazier, Zoë; Maiwald, Robert; Pergande, Matthias; Milani, Donatella; Rinelli, Martina; Levy, Jonathan; Krey, Ilona; Fontana, Paolo; Lonardo, Fortunato; Riley, Stephanie; Kretzer, Jasmine; Rankin, Julia; Reis, Linda M; Semina, Elena V; Reuter, Miriam S; Scherer, Stephen W; Iascone, Maria; Weis, Denisa; Fagerberg, Christina R; Brasch-Andersen, Charlotte; Hansen, Lars Kjaersgaard; Kuechler, Alma; Noble, Nathan; Gardham, Alice; Tenney, Jessica; Rathore, Geetanjali; Beck-Woedl, Stefanie; Haack, Tobias B; Pavlidou, Despoina C; Atallah, Isis; Vodopiutz, Julia; Janecke, Andreas R; Hsieh, Tzung-Chien; Lesmann, Hellen; Klinkhammer, Hannah; Krawitz, Peter M; Lemke, Johannes R; Jamra, Rami Abou; Nieto, Marta; Tümer, Zeynep; Platzer, Konrad
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 .
Academic Journal
Fagerberg, Christina R; Taylor, Adrian; Distelmaier, Felix; Schrøder, Henrik D; Kibæk, Maria; Wieczorek, Dagmar; Tarnopolsky, Mark; Brady, Lauren; Larsen, Martin J; Jamra, Rami A; Seibt, Annette; Hejbøl, Eva Kildall; Gade, Else; Markovic, Ljubo; Klee, Dirk; Nagy, Peter; Rouse, Nicholas; Agarwal, Prasoon; Dolinsky, Vernon W; Bakovic, Marica
Academic Journal
Fagerberg, Christina R; Taylor, Adrian; Distelmaier, Felix; Schrøder, Henrik D; Kibæk, Maria; Wieczorek, Dagmar; Tarnopolsky, Mark; Brady, Lauren; Larsen, Martin J; Jamra, Rami A; Seibt, Annette; Hejbøl, Eva Kildall; Gade, Else; Markovic, Ljubo; Klee, Dirk; Nagy, Peter; Rouse, Nicholas; Agarwal, Prasoon; Dolinsky, Vernon W; Bakovic, Marica
Electronic Resource
Genetica Klinische Genetica; Child Health; Genetica Sectie Genoomdiagnostiek; Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S; Soucy, Aubrie; Genetti, Casie A; Suslovitch, Victoria; Rodan, Lance H; Tiller, George E; Lesca, Gaetan; Gripp, Karen W; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D; Turnpenny, Peter D; Simon, Marleen E H; Volker-Touw, Catharina M L; Gassen, Koen L I van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B A de; Immken, LaDonna L; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L; Fannemel, Madeleine; Posey, Jennifer E; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R; Larsen, Martin J; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K; Walsh, Laurence E; Aldinger, Kimberly A; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B; Cohen, Lilian L; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B; Beggs, Alan H; Yu, Timothy W
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[AR] Fagerberg, Christina R
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