학술논문
'학술논문'
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Academic Journal
Breuss, Martin W; Sultan, Tipu; James, Kiely N; Rosti, Rasim O; Scott, Eric; Musaev, Damir; Furia, Bansri; Reis, André; Sticht, Heinrich; Al-Owain, Mohammed; Alkuraya, Fowzan S; Reuter, Miriam S; Jamra, Rami Abou; Trotta, Christopher R; Gleeson, Joseph G
American Journal of Human Genetics. 99(1)
Academic Journal
Schaffer, Ashleigh E; Eggens, Veerle RC; Caglayan, Ahmet Okay; Reuter, Miriam S; Scott, Eric; Coufal, Nicole G; Silhavy, Jennifer L; Xue, Yuanchao; Kayserili, Hulya; Yasuno, Katsuhito; Rosti, Rasim Ozgur; Abdellateef, Mostafa; Caglar, Caner; Kasher, Paul R; Cazemier, J Leonie; Weterman, Marian A; Cantagrel, Vincent; Cai, Na; Zweier, Christiane; Altunoglu, Umut; Satkin, N Bilge; Aktar, Fesih; Tuysuz, Beyhan; Yalcinkaya, Cengiz; Caksen, Huseyin; Bilguvar, Kaya; Fu, Xiang-Dong; Trotta, Christopher R; Gabriel, Stacey; Reis, André; Gunel, Murat; Baas, Frank; Gleeson, Joseph G
Cell. 157(3)
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
Meyer, Esther; Carss, Keren J; Rankin, Julia; Nichols, John M E; Grozeva, Detelina; Joseph, Agnel P; Mencacci, Niccolo E; Papandreou, Apostolos; Ng, Joanne; Barral, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A; Israel, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; McKee, Shane; Misra, Shibalik; Mohammed, Shekeeb S; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J; Peters, Gregory B; Prabhakar, Prab; Reuter, Miriam S; Rump, Patrick; Segel, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T; Winter, Gidon; Wragg, Christopher; Pope, Simon; Heales, Simon J H; Morrogh, Deborah; Pittman, Alan; Carr, Lucinda J; Perez-Dueñas, Belen; Lin, Jean-Pierre; Reis, Andre; Gahl, William A; Toro, Camilo; Bhatia, Kailash P; Wood, Nicholas W; Kamsteeg, Erik-Jan; Chong, Wui K; Gissen, Paul; Topf, Maya; Dale, Russell C; Chubb, Jonathan R; Raymond, F Lucy; Kurian, Manju A
Nature Genetics. February 2017, Vol. 49 Issue 2, p223, 15 p.
Academic Journal
Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Gläser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wödl, Stefanie; Kohlhase, Jürgen; Reis, André; Zweier, Christiane
Journal of Medical Genetics. Jan 01, 2017 54(1):64-72
Periodical
Lionel, Anath C; Costain, Gregory; Monfared, Nasim; Walker, Susan; Reuter, Miriam S; Hosseini, S Mohsen; Thiruvahindrapuram, Bhooma; Merico, Daniele; Jobling, Rebekah; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Sung, Wilson W L; Wang, Zhuozhi; Bikangaga, Peter; Boelman, Cyrus; Carter, Melissa T; Cordeiro, Dawn; Cytrynbaum, Cheryl; Dell, Sharon D; Dhir, Priya; Dowling, James J; Heon, Elise; Hewson, Stacy; Hiraki, Linda; Inbar-Feigenberg, Michal; Klatt, Regan; Kronick, Jonathan; Laxer, Ronald M; Licht, Christoph; MacDonald, Heather; Mercimek-Andrews, Saadet; Mendoza-Londono, Roberto; Piscione, Tino; Schneider, Rayfel; Schulze, Andreas; Silverman, Earl; Siriwardena, Komudi; Snead, O Carter; Sondheimer, Neal; Sutherland, Joanne; Vincent, Ajoy; Wasserman, Jonathan D; Weksberg, Rosanna; Shuman, Cheryl; Carew, Chris; Szego, Michael J; Hayeems, Robin Z; Basran, Raveen; Stavropoulos, Dimitri J; Ray, Peter N; Bowdin, Sarah; Meyn, M Stephen; Cohn, Ronald D; Scherer, Stephen W; Marshall, Christian R
Genetics in Medicine; April 2018, Vol. 20 Issue: 4 p435-443, 9p
Periodical
Reuter, Miriam S; Riess, Angelika; Moog, Ute; Briggs, Tracy A; Chandler, Kate E; Rauch, Anita; Stampfer, Miriam; Steindl, Katharina; Glaser, Dieter; Joset, Pascal; Krumbiegel, Mandy; Rabe, Harald; Schulte-Mattler, Uta; Bauer, Peter; Beck-Wodl, Stefanie; Kohlhase, Jurgen; Reis, André; Zweier, Christiane
Journal of Medical Genetics (JMG); 2017, Vol. 54 Issue: 1 p64-72, 9p
Periodical
Nature Protocols; October 2008, Vol. 3 Issue: 10 p1645-1653, 9p
Academic Journal
Meyer, Esther; Carss, Keren J; Rankin, Julia; Nichols, John M E; Grozeva, Detelina; Joseph, Agnel P; Mencacci, Niccolo E; Papandreou, Apostolos; Ng, Joanne; Barral, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A; Israel, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; McKee, Shane; Misra, Shibalik; Mohammed, Shekeeb S; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J; Peters, Gregory B; Prabhakar, Prab; Reuter, Miriam S; Rump, Patrick; Segel, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T; Winter, Gidon; Wragg, Christopher; Pope, Simon; Heales, Simon J H; Morrogh, Deborah; Pittman, Alan; Carr, Lucinda J; Perez-Dueñas, Belen; Lin, Jean-Pierre; Reis, Andre; Gahl, William A; Toro, Camilo; Bhatia, Kailash P; Wood, Nicholas W; Kamsteeg, Erik-Jan; Chong, Wui K; Gissen, Paul; Topf, Maya; Dale, Russell C; Chubb, Jonathan R; Raymond, F Lucy; Kurian, Manju A
Nature Genetics. June 2017, Vol. 49 Issue 6, p969, 1 p.
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[AR] Reuter, Miriam S
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