학술논문
'학술논문'
에서 검색결과 31건 | 목록
1~10
Academic Journal
Steffens, Paula; Weiss, Deike; Perez, Anna; Appel, Manuel; Weber, Philipp; Weiss, Claudia; Stoltenburg, Corinna; Ehinger, Ute; von der Hagen, Maja; Schallner, Jens; Claussen, Birte; Lode, Ilka; Hahn, Andreas; Schuler, Rahel; Ruß, Lena; Ziegler, Andreas; Denecke, Jonas; Johannsen, Jessika
In European Journal of Paediatric Neurology July 2024 51:17-23
Academic Journal
Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A.; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R.; van de Pol, Laura A.; van Hagen, Johanna M.; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F.; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R.; Calame, Daniel G.; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A.; Dobyns, William B.; Calvas, Patrick; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M.; Tremblay, André; Michaud, Jacques L.
In Genetics in Medicine August 2023 25(8)
Academic Journal
van der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E.M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C.P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O’Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W.E.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix
European Journal of Human Genetics. 31(8):905-917
Periodical
Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C.; Steinbach, Meike; Blaschek, Astrid; Baumann, Matthias; Baumgartner, Manuela; Becker, Benedikt; Flotats-Bastardas, Marina; Friese, Johannes; Günther, Rene; Hahn, Andreas; Küpper, Hanna; Johannsen, Jessika; Kamm, Christoph; Koch, Jan Christoph; Köhler, Cornelia; Kölbel, Heike; Kolzter, Kirsten; von Moers, Arpad; Naegel, Steffen; Neuwirth, Christoph; Petri, Susanne; Rödiger, Annekathrin; Schimmel, Mareike; Schrank, Bertold; Schreiber, Gudrun; Smitka, Martin; Stadler, Christian; Steiner, Elisabeth; Stögmann, Eva; Trollmann, Regina; Türk, Matthias; Weiler, Markus; Stoltenburg, Corinna; Willichowsky, Ekkehard; Zeller, Daniel; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd
Journal of Neuromuscular Diseases; January 2023, Vol. 10 Issue: 1 p29-40, 12p
Periodical
Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-13, 13p
Academic Journal
Academic Journal
Pechmann, Astrid; Behrens, Max; Dörnbrack, Katharina; Tassoni, Adrian; Wenzel, Franziska; Stein, Sabine; Vogt, Sibylle; Zöller, Daniela; Bernert, Günther; Hagenacker, Tim; Schara-Schmidt, Ulrike; Walter, Maggie C.; Bertsche, Astrid; Vill, Katharina; Baumann, Matthias; Baumgartner, Manuela; Cordts, Isabell; Eisenkölbl, Astrid; Flotats-Bastardas, Marina; Friese, Johannes; Günther, René; Hahn, Andreas; Horber, Veronka; Husain, Ralf A.; Illsinger, Sabine; Jahnel, Jörg; Johannsen, Jessika; Köhler, Cornelia; Kölbel, Heike; Müller, Monika; von Moers, Arpad; Schwerin-Nagel, Annette; Reihle, Christof; Schlachter, Kurt; Schreiber, Gudrun; Schwartz, Oliver; Smitka, Martin; Steiner, Elisabeth; Trollmann, Regina; Weiler, Markus; Weiss, Claudia; Wiegand, Gert; Wilichowski, Ekkehard; Ziegler, Andreas; Lochmüller, Hanns; Kirschner, Janbernd; Ameshofer, Lisa; Andres, Barbara; Angelova-Toshkina, Daniela; Banholzer, Daniela; Bant, Christina; Baum, Petra; Baumann, Sandra; Baur, Ute; Becker, Benedikt; Behring, Bettina; Bellut, Julia; Bevot, Andrea; Bischofberger, Jasmin; Bitzan, Lisa; Bjelica, Bogdan; Blankenburg, Markus; Böger, Sandra; Bonetti, Friederike; Bongartz, Anke; Brakemeier, Svenja; Bratka, Lisa; Braun, Nathalie; Braun, Sarah; Brauner, Brigitte; Bretschneider, Christa; Burgenmeister, Nadine; Burke, Bea; Cirak, Sebahattin; Dall, Andrea; de Vries, Heike; Marina, Adela Della; Denecke, Jonas; Deschauer, Marcus; Dibrani, Zylfie; Diebold, Uta; Dondit, Lutz; Drebes, Jessica; Driemeyer, Joenna; Dukic, Vladimir; Eckenweiler, Matthias; Eminger, Mirjam; Fischer, Michal; Fischer, Cornelia; Freigang, Maren; Gaiser, Philippa; Gangfuss, Andrea; Geitmann, Stephanie; George, Annette; Gosk-Tomek, Magdalena; Grinzinger, Susanne; Gröning, Kristina; Gross, Martin; Güttsches, Anne-Katrin; Hagenmeyer, Anna; Hartmann, Hans; Haverkamp, Julia; Hiebeler, Miriam; Hoevel, Annegret; Hoffmann, Georg Friedrich; Holtkamp, Britta; Holzwarth, Dorothea; Homma, Annette; Horneff, Viola; Hörnig, Carolin; Hotter, Anna; Hubert, Andrea; Huppke, Peter; Jansen, Eva; Jung, Lisa; Kaiser, Nadja; Kappel, Stefan; Katharina, Bolte; Koch, Johannes; Kölke, Stefan; Korschinsky, Brigitte; Kostede, Franziska; Krause, Karsten; Küpper, Hanna; Lang, Annina; Lange, Irene; Langer, Thorsten; Lechner, Yvonne; Lehmann, Helmar; Leypold, Christine; Lingor, Paul; Lipka, Jaqueline; Löscher, Wolfgang; Luiking, Antje; Machetanz, Gerrit; Malm, Eva; Martakis, Kyriakos; Menzen, Bettina; Metelmann, Moritz; zu Hörste, Gerd Meyer; Montagnese, Federica; Mörtlbauer, Kathrin; Müller, Petra; Müller, Anne; Müller, Anja; Müschen, Lars; Neuwirth, Christoph; Niesert, Moritz; Pauschek, Josefine; Pernegger, Elke; Petri, Susanne; Pilshofer, Veronika; Plecko, Barbara; Pollok, Jürgen; Preisel, Martin; Pühringer, Manuel; Quinten, Anna Lisa; Raffler, Sabine; Ramadan, Barbara; Rappold, Mika; Rauscher, Christian; Reckmann, Kerstin; Reinhardt, Tabea; Röder, Melanie; Roland-Schäfer, Doris; Roth, Erdmute; Russ, Lena; Saffari, Afshin; Schimmel, Mareike; Schlag, Melina; Schlotter-Weigel, Beate; Schneider, Joanna; Schöne-Bake, Jan-Christoph; Schorling, David; Schreiner, Isabella; Schüssler, Stephanie; Schwarzbach, Michaela; Schwippert, Michaela; Semmler, Luisa; Smuda, Karin; Sprenger-Svacina, Alina; Stadler, Theresa; Steffens, Paula; Steuernagel, Daniela; Stolte, Benjamin; Stoltenburg, Corinna; Tasch, Gehrke; Thimm, Andreas; Tiefenthaler, Elke; Topakian, Raffi; Türk, Matthias; van der Stam, Lieske; Vettori, Katia; Vollmann, Peter; Vorgerd, Matthias; Weiss, Deike; Wenninger, Stephan; Werring, Svea; Wessel, Maria; Weyen, Ute; Wider, Sabine; Wiebe, Nils Ole; Wiesenhofer, Anna; Wiethoff, Sarah; Wirner, Corinna; Wohnrade, Camilla; Wunderlich, Gilbert; Zeller, Daniel; Zemlin, Michael; Zobel, Joachim
Orphanet Journal of Rare Diseases. October 23, 2022, Vol. 17 Issue 1
Periodical
Weiß, Claudia; Ziegler, Andreas; Becker, Lena-Luise; Johannsen, Jessika; Brennenstuhl, Heiko; Schreiber, Gudrun; Flotats-Bastardas, Marina; Stoltenburg, Corinna; Hartmann, Hans; Illsinger, Sabine; Denecke, Jonas; Pechmann, Astrid; Müller-Felber, Wolfgang; Vill, Katharina; Blaschek, Astrid; Smitka, Martin; van der Stam, Lieske; Weiss, Katja; Winter, Benedikt; Goldhahn, Klaus; Plecko, Barbara; Horber, Veronka; Bernert, Günther; Husain, Ralf A; Rauscher, Christian; Trollmann, Regina; Garbade, Sven F; Hahn, Andreas; von der Hagen, Maja; Kaindl, Angela M
The Lancet Child & Adolescent Health; January 2022, Vol. 6 Issue: 1 p17-27, 11p
Academic Journal
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