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Academic Journal
Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane
In The Lancet Neurology November 2020 19(11):908-918
Academic Journal
Fasham, James; Huebner, Antje K; Liebmann, Lutz; Khalaf-Nazzal, Reham; Maroofian, Reza; Kryeziu, Nderim; Wortmann, Saskia B; Leslie, Joseph S; Ubeyratna, Nishanka; Mancini, Grazia M S; Slegtenhorst, Marjon van; Wilke, Martina; Haack, Tobias B; Shamseldin, Hanan E; Gleeson, Joseph G; Almuhaizea, Mohamed; Dweikat, Imad; Abu-Libdeh, Bassam; Daana, Muhannad; Zaki, Maha S
Periodical
Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 7 p689-698, 10p
Electronic Resource
MDL patientenzorg; Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan Eksi; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier Luigi; Crushell, Ellen; Dalgıç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kırsaçlıoğlu, Ceyda Tuna; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McLean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg Friedrich; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger
Periodical
Tucker, Elena J; Baker, Megan J; Hock, Daniella H; Warren, Julia T; Jaillard, Sylvie; Bell, Katrina M; Sreenivasan, Rajini; Bakhshalizadeh, Shabnam; Hanna, Chloe A; Caruana, Nikeisha J; Wortmann, Saskia B; Rahman, Shamima; Pitceathly, Robert D S; Donadieu, Jean; Alimi, Aurelia; Launay, Vincent; Coppo, Paul; Christin-Maitre, Sophie; Robevska, Gorjana; van den Bergen, Jocelyn; Kline, Brianna L; Ayers, Katie L; Stewart, Phoebe N; Stroud, David A; Stojanovski, Diana; Sinclair, Andrew H
The Journal of Clinical Endocrinology & Metabolism; December 2022, Vol. 107 Issue: 12 p3328-3340, 13p
Academic Journal
Feichtinger, René G; Hüllen, Andreas; Koller, Andreas; Kotzot, Dieter; Grote, Valerian; Rapp, Erdmann; Hofbauer, Peter; Brugger, Karin; Thiel, Christian; Mayr, Johannes A; Wortmann, Saskia B
EMBO Molecular Medicine; 9/7/2021, Vol. 13 Issue 9, p1-15, 15p
Academic Journal
Renkema, G Herma; Wortmann, Saskia B; Smeets, Roel J; Venselaar, Hanka; Antoine, Marion; Visser, Gepke; Ben-Omran, Tawfeg; van den Heuvel, Lambert P; Timmers, Henri J L M; Smeitink, Jan A; Rodenburg, Richard J T
Academic Journal
Vaz, Frédéric M; McDermott, John H; Alders, Mariëlle; Wortmann, Saskia B; Kölker, Stefan; Pras-Raves, Mia L; Vervaart, Martin A T; Lenthe, Henk van; Luyf, Angela C M; Elfrink, Hyung L; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E; Yarwood, Rebecca; Lowe, Martin P; Lovell, Simon; Rogers, Richard C; Study, Deciphering Developmental Disorders; Kampen, Antoine H C van; Ruiter, Jos P N
Academic Journal
Wortmann, Saskia B; Vaz, Frédéric M; Gardeitchik, Thatjana; Vissers, Lisenka E L M; Renkema, G Herma; Schuurs-Hoeijmakers, Janneke H M; Kulik, Wim; Lammens, Martin; Christin, Christin; Kluijtmans, Leo A J; Rodenburg, Richard J; Nijtmans, Leo G J; Grünewald, Anne; Klein, Christine; Gerhold, Joachim M; Kozicz, Tamas; van Hasselt, Peter M; Harakalova, Magdalena; Kloosterman, Wigard; Bari?, Ivo
Academic Journal
Kleefstra, Tjitske; Wortmann, Saskia B; Rodenburg, Richard J. T.; Bongers, Ernie M. H. F.; Hadzsiev, Kinga; Noordam, Cees; Van den Heuvel, Lambert P.; Nillesen, Willy M.; Hollody, Katalin; Gillessen-Kaesbach, Gabrielle; Lammens, Martin; Smeitink, Jan A. M.; Van der Burgt, Ineke; Morava, Eva
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[AR] Wortmann, Saskia B
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