부산대학교 도서관

Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner

Nat Genet
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M.; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C.; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S.; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J.; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M. C.; Schaaf, Christian P.; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M.; Kotzaeridou, Urania; Hoffmann, Georg F.; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S.; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M.; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R.; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J.; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M.; Haack, Tobias; Ehmke, Nadja; Wagner, Matias

Nature Genetics. :1-2

Ralf A Husain; Xinfu Jiao; J Christopher Hennings; Jan Giesecke; Geeta Palsule; Stefanie Beck-Wödl; Dina Osmanović; Kathrine Bjørgo; Asif Mir; Muhammad Ilyas; Saad M Abbasi; Stephanie Efthymiou; Natalia Dominik; Reza Maroofian; Henry Houlden; Julia Rankin; Alistair T Pagnamenta; Marwan Nashabat; Waleed Altwaijri; Majid Alfadhel; Muhammad Umair; Ebtissal Khouj; William Reardon; Ayman W El-Hattab; Mohammed Mekki; Gunnar Houge; Christian Beetz; Peter Bauer; Audrey Putoux; Gaetan Lesca; Damien Sanlaville; Fowzan S Alkuraya; Robert W Taylor; Hans-Joachim Mentzel; Christian A Hübner; Peter Huppke; Ronald P Hart; Tobias B Haack; Megerditch Kiledjian; Ignacio Rubio

Brain. 147:1197-1205

I. Bader; K. Buder; F. Cheng; D. Witt; S. Beck-Wödl; M. Sturm; P. Stöbe; O. Rieß; T. Haack

Neuropediatrics. 55

Laugwitz, Lucia ; Schoenmakers, Daphne H. ; Adang, Laura A. ; Beck-Woedl, Stefanie ; Bergner, Caroline ; Bernard, Geneviève ; Bley, Annette ; Boyer, Audrey ; Calbi, Valeria ; Dekker, Hanka ; Eichler, Florian ; Eklund, Erik ; Fumagalli, Francesca ; Gavazzi, Francesco ; Grønborg, Sabine W. ; van Hasselt, Peter ; Langeveld, Mirjam ; Lindemans, Caroline ; Mochel, Fanny ; Oberg, Andreas ; Ram, Dipak ; Saunier-Vivar, Elise ; Schöls, Ludger ; Scholz, Michael ; Sevin, Caroline ; Zerem, Ayelet ; Wolf, Nicole I. ; Groeschel, Samuel

In European Journal of Paediatric Neurology March 2024 49:141-154

Jet van der Spek; Joery den Hoed; Lot Snijders Blok; Alexander J.M. Dingemans; Dick Schijven; Christoffer Nellaker; Hanka Venselaar; Galuh D.N. Astuti; Tahsin Stefan Barakat; E. Martina Bebin; Stefanie Beck-Wödl; Gea Beunders; Natasha J. Brown; Theresa Brunet; Han G. Brunner; Philippe M. Campeau; Goran Čuturilo; Christian Gilissen; Tobias B. Haack; Irina Hüning; Ralf A. Husain; Benjamin Kamien; Sze Chern Lim; Luca Lovrecic; Janine Magg; Ales Maver; Valancy Miranda; Danielle C. Monteil; Charlotte W. Ockeloen; Lynn S. Pais; Vasilica Plaiasu; Laura Raiti; Christopher Richmond; Angelika Rieß; Eva M.C. Schwaibold; Marleen E.H. Simon; Stephanie Spranger; Tiong Yang Tan; Michelle L. Thompson; Bert B.A. de Vries; Ella J. Wilkins; Marjolein H. Willemsen; Clyde Francks; Lisenka E.L.M. Vissers; Simon E. Fisher; Tjitske Kleefstra

Genetics in Medicine, 24, 6, pp. 1283-1296
Genetics in Medicine

Burkhardt T; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.; Kastor KL; Department of Pediatrics and Adolescent Medicine Marienhaus Klinikum St. Elisabeth Neuwied Neuwied Germany.; Christ S; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.; Opladen T; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.; Staufner C; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.; Haack T; Institute of Medical Genetics and Applied Genomics, Eberhard Karls University Tübingen Tübingen Germany.; Hempel M; Medical Faculty, Institute of Human Genetics Heidelberg University Heidelberg Germany.; Seitz A; Medical Faculty, Department of Neuroradiology Heidelberg University Heidelberg Germany.; Kölker S; Medical Faculty, Center for Pediatrics and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine Heidelberg University Heidelberg Germany.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Tim Bender; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Spier Isabel; Heimbach André; Bender Tim; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Vill Katharina; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner

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V. Santhanakumaran; M. Pechan; V. Knauer; G. Merkel; J. Böhringer; K. Harzer; L. Laugwitz; S. Beck-Wödl; I. Krägeloh-Mann; S. Groeschel

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Neurology 87(2), 186-191 (2016). doi:10.1212/WNL.0000000000002843
Neurology

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; de Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, H. lya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

van der Sluijs, P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, de Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H L, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Calvo, A S, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, 'Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)', Genetics in Medicine, vol. 21, no. 9, pp. 2160-2161. https://doi.org/10.1038/s41436-018-0368-y

Roos A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; van der Ven PFM; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Alrohaif H; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Kuwait Medical Genetics Center, Sabah Hospital, Kuwait City, Kuwait.; Kölbel H; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Heil L; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Della Marina A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Aßent M; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Barresi R; San Camillo IRCCS, 30126 Venezia - Lido, Italy.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; O'Connor K; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Sickmann A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Kohlschmidt N; Institute of Clinical Genetics and Tumour Genetics, 53111 Bonn, Germany.; El Gizouli M; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Meyer N; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Daya N; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; Grande V; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Bois K; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.; Schröder C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Schara-Schmidt U; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Gangfuss A; Department of Pediatric Neurology, Center for Neuromuscular Disorders, Center for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Evangelista T; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK.; Nord/Est/Ile-de-France Neuromuscular Reference Center, Institute of Myology, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, 75013 Paris, France.; Röbisch L; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Hentschel A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Grüneboom A; Department of Bioanalytics, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., 44227 Dortmund, Germany.; Fuerst DO; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, 53121 Bonn, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Tzschach A; Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany.; Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.; Lochmüller H; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, K1H 8L1, Canada.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Oppermann, Henry; Marcos-Graneda, 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, Zoe; 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.; Abou Jamra, Rami; Nieto, Marta; Tumer, Zeynep; Platzer, Konrad

EUROPEAN JOURNAL OF HUMAN GENETICS; AUG 30 2023, 10p.

Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Hoopmann M; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany.; Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Prodan NC; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grasshoff U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Kehrer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Falb RJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Liebmann A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Roggia C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Stampfer M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schadeck M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Müller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Stöbe P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Gauck D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Buchert-Lo R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Baumann S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schäferhoff K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Menden B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Schütz L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Kagan KO; Department for Women's Health, University Hospital of Tübingen, Tübingen, Germany.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Ganser K; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Eckert F; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Riedel A; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Stransky N; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Department of Pharmacology, Toxicology and Clinical Pharmacy, Institute of Pharmacy, University of Tübingen, Tübingen, Germany.; Paulsen F; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Noell S; Department of Neurosurgery, University of Tübingen, Tübingen, Germany.; Krueger M; Preclinical Imaging and Radiopharmacy, Werner Siemens Imaging Center, University of Tübingen, Tübingen, Germany.; Schittenhelm J; Department of Neuropathology, University of Tübingen, Tübingen, Germany.; Beck-Wödl S; Institute of Medical Genetics und Applied Genomics, University of Tübingen, Tübingen, Germany.; Zips D; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Ruth P; Department of Pharmacology, Toxicology and Clinical Pharmacy, Institute of Pharmacy, University of Tübingen, Tübingen, Germany.; Huber SM; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.; Klumpp L; Department of Radiation Oncology, University of Tübingen, Tübingen, Germany.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0042124 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0215 (Electronic) Linking ISSN: 00207136 NLM ISO Abbreviation: Int J Cancer Subsets: MEDLINE

S. Heyder; S. Beck-Wödl; M. Kohlhäufl

Der Pneumologe. 11:441-443