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Lancet neurology, 2020-11, Vol.19 (11), p.908-918
- Zech, Michael
- Jech, Robert
- Boesch, Sylvia
- Škorvánek, Matej
- Weber, Sandrina
- Wagner, Matias
- Zhao, Chen
- Jochim, Angela
- Necpál, Ján
- Vill, Katharina
- Stoklosa, Malgorzata
- Krenn, Martin
- Grunwald, Stephan
- Bock-Bierbaum, Tobias
- Fečíková, Anna
- Roth, Jan
- Příhodová, Iva
- Adamovičová, Miriam
- Ulmanová, Olga
- Bechyně, Karel
- Danhofer, Pavlína
- Veselý, Branislav
- Haň, Vladimír
- Gdovinová, Zuzana
- Mantel, Tobias
- Meindl, Tobias
- Sitzberger, Alexandra
- Schröder, Sebastian
- Blaschek, Astrid
- Roser, Timo
- Bonfert, Michaela V
- Haberlandt, Edda
- Plecko, Barbara
- Berweck, Steffen
- Herberhold, Thomas
- Langguth, Berthold
- Švantnerová, Jana
- Minár, Michal
- Ramos-Rivera, Gonzalo Alonso
- Wojcik, Monica H
- Pajusalu, Sander
- Õunap, Katrin
- Pölsler, Laura
- Milenkovic, Ivan
- Laccone, Franco
- Pilshofer, Veronika
- Colombo, Roberto
- Patzer, Steffi
- Iuso, Arcangela
- Vera, Julia
- Troncoso, Monica
- Fang, Fang
- Wilbert, Friederike
- Eckenweiler, Matthias
- Graf, Elisabeth
- Westphal, Dominik S
- Riedhammer, Korbinian M
- Alhaddad, Bader
- Berutti, Riccardo
- Strom, Tim M
- Hecht, Martin
- Baumann, Matthias
- Wolf, Marc
- Telegrafi, Aida
- Person, Richard E
- Zamora, Francisca Millan
- Henderson, Lindsay B
- 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
- Hackenberg, Annette
- Steinfeld, Robert
- Assmann, Birgit
- Staufner, Christian
- Opladen, Thomas
- Růžička, Evžen
- Cohn, Ronald D
- Dyment, David
- Chung, Wendy K
- Engels, Hartmut
- Ploski, Rafal
- Daumke, Oliver
- Haslinger, Bernhard
- Mall, Volker
- Oexle, Konrad
- Winkelmann, Juliane
2020
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American journal of human genetics, 2020-08, Vol.107 (2), p.364-373
- Husain, Ralf A.
- Grimmel, Mona
- Wagner, Matias
- Hennings, J. Christopher
- Marx, Christian
- Feichtinger, René G.
- Saadi, Abdelkrim
- Rostásy, Kevin
- Radelfahr, Florentine
- Bevot, Andrea
- Döbler-Neumann, Marion
- Hartmann, Hans
- Colleaux, Laurence
- Cordts, Isabell
- Kobeleva, Xenia
- Darvish, Hossein
- Bakhtiari, Somayeh
- Kruer, Michael C.
- Besse, Arnaud
- Ng, Andy Cheuk-Him
- Chiang, Diana
- Bolduc, Francois
- Tafakhori, Abbas
- Mane, Shrikant
- Ghasemi Firouzabadi, Saghar
- Huebner, Antje K.
- Buchert, Rebecca
- Beck-Woedl, Stefanie
- Müller, Amelie J.
- Laugwitz, Lucia
- Nägele, Thomas
- Wang, Zhao-Qi
- Strom, Tim M.
- Sturm, Marc
- Meitinger, Thomas
- Klockgether, Thomas
- Riess, Olaf
- Klopstock, Thomas
- Brandl, Ulrich
- Hübner, Christian A.
- Deschauer, Marcus
- Mayr, Johannes A.
- Bonnen, Penelope E.
- Krägeloh-Mann, Ingeborg
- Wortmann, Saskia B.
- Haack, Tobias B.
2020
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Fertility and sterility, 2017-07, Vol.108 (1), p.168-174
- van Erven, Britt, M.D., Ph.D
- Berry, Gerard T., M.D
- Cassiman, David, M.D., Ph.D
- Connolly, Geraldine, M.D
- Forga, Maria, M.D
- Gautschi, Matthias, M.D., Ph.D
- Gubbels, Cynthia S., M.D., Ph.D
- Hollak, Carla E.M., M.D., Ph.D
- Janssen, Mirian C., M.D., Ph.D
- Knerr, Ina, M.D., Ph.D
- Labrune, Philippe, M.D., Ph.D
- Langendonk, Janneke G., M.D., Ph.D
- Õunap, Katrin, M.D., Ph.D
- Thijs, Abel, M.D., Ph.D
- Vos, Rein, Ph.D
- Wortmann, Saskia B., M.D., Ph.D
- Rubio-Gozalbo, M. Estela, M.D., Ph.D
2017
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American journal of human genetics, 2020-01, Vol.106 (1), p.92-101
- Alston, Charlotte L.
- Veling, Mike T.
- Heidler, Juliana
- Taylor, Lucie S.
- Alaimo, Joseph T.
- Sung, Andrew Y.
- He, Langping
- Hopton, Sila
- Broomfield, Alexander
- Pavaine, Julija
- Diaz, Jullianne
- Leon, Eyby
- Wolf, Philipp
- McFarland, Robert
- Prokisch, Holger
- Wortmann, Saskia B.
- Bonnen, Penelope E.
- Wittig, Ilka
- Pagliarini, David J.
- Taylor, Robert W.
2020
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Biochimica et biophysica acta. General subjects, 2020-04, Vol.1864 (4), p.129512-129512, Article 129512
2020
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American journal of human genetics, 2019-08, Vol.105 (2), p.302-316
- Paine, Ingrid
- Posey, Jennifer E.
- Grochowski, Christopher M.
- Jhangiani, Shalini N.
- Rosenheck, Sarah
- Kleyner, Robert
- Marmorale, Taylor
- Yoon, Margaret
- Wang, Kai
- Robison, Reid
- Cappuccio, Gerarda
- Pinelli, Michele
- Magli, Adriano
- Coban Akdemir, Zeynep
- Hui, Joannie
- Yeung, Wai Lan
- Wong, Bibiana K.Y.
- Ortega, Lucia
- Bekheirnia, Mir Reza
- Bierhals, Tatjana
- Hempel, Maja
- Johannsen, Jessika
- Santer, René
- Aktas, Dilek
- Alikasifoglu, Mehmet
- Bozdogan, Sevcan
- Aydin, Hatip
- Karaca, Ender
- Bayram, Yavuz
- Ityel, Hadas
- Dorschner, Michael
- White, Janson J.
- Wilichowski, Ekkehard
- Wortmann, Saskia B.
- Casella, Erasmo B.
- Kitajima, Joao Paulo
- Kok, Fernando
- Monteiro, Fabiola
- Muzny, Donna M.
- Bamshad, Michael
- Gibbs, Richard A.
- Sutton, V. Reid
- Van Esch, Hilde
- Brunetti-Pierri, Nicola
- Hildebrandt, Friedhelm
- Brautbar, Ariel
- Van den Veyver, Ignatia B.
- Glass, Ian
- Lessel, Davor
- Lyon, Gholson J.
- Lupski, James R.
2019
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American journal of human genetics, 2020-01, Vol.106 (1), p.102-111
2020
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The Journal of pediatrics, 2016-08, Vol.175, p.130-136.e8
- Wong, Sunnie Yan-Wai, BA
- Beamer, Lesa J., PhD
- Gadomski, Therese, BS
- Honzik, Tomas, MD, PhD
- Mohamed, Miski, MD, PhD
- Wortmann, Saskia B., MD, PhD
- Brocke Holmefjord, Katja S., MD
- Mork, Marit, MD
- Bowling, Francis, MD, PhD
- Sykut-Cegielska, Jolanta, MD, PhD
- Koch, Dieter, MD
- Ackermann, Amanda, MD, PhD
- Stanley, Charles A., MD
- Rymen, Daisy, MD, PhD
- Zeharia, Avraham, MD
- Al-Sayed, Moeen, MD
- Marquardt, Thomas, MD
- Jaeken, Jaak, MD, PhD
- Lefeber, Dirk, PhD
- Conrad, Donald F., PhD
- Kozicz, Tamas, MD, PhD
- Morava, Eva, MD, PhD
2016
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American journal of human genetics, 2018-03, Vol.102 (3), p.460-467
- Piekutowska-Abramczuk, Dorota
- Assouline, Zahra
- Mataković, Lavinija
- Feichtinger, René G.
- Koňařiková, Eliška
- Jurkiewicz, Elżbieta
- Stawiński, Piotr
- Gusic, Mirjana
- Koller, Andreas
- Pollak, Agnieszka
- Gasperowicz, Piotr
- Trubicka, Joanna
- Ciara, Elżbieta
- Iwanicka-Pronicka, Katarzyna
- Rokicki, Dariusz
- Hanein, Sylvain
- Wortmann, Saskia B.
- Sperl, Wolfgang
- Rötig, Agnès
- Prokisch, Holger
- Pronicka, Ewa
- Płoski, Rafał
- Barcia, Giulia
- Mayr, Johannes A.
2018
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American journal of human genetics, 2020-02, Vol.106 (2), p.256-263
2020
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American journal of human genetics, 2017-10, Vol.101 (4), p.525-538
- Feichtinger, René G.
- Oláhová, Monika
- Kishita, Yoshihito
- Garone, Caterina
- Kremer, Laura S.
- Yagi, Mikako
- Uchiumi, Takeshi
- Jourdain, Alexis A.
- Thompson, Kyle
- D’Souza, Aaron R.
- Kopajtich, Robert
- Alston, Charlotte L.
- Koch, Johannes
- Sperl, Wolfgang
- Mastantuono, Elisa
- Strom, Tim M.
- Wortmann, Saskia B.
- Meitinger, Thomas
- Pierre, Germaine
- Chinnery, Patrick F.
- Chrzanowska-Lightowlers, Zofia M.
- Lightowlers, Robert N.
- DiMauro, Salvatore
- Calvo, Sarah E.
- Mootha, Vamsi K.
- Moggio, Maurizio
- Sciacco, Monica
- Comi, Giacomo P.
- Ronchi, Dario
- Murayama, Kei
- Ohtake, Akira
- Rebelo-Guiomar, Pedro
- Kohda, Masakazu
- Kang, Dongchon
- Mayr, Johannes A.
- Taylor, Robert W.
- Okazaki, Yasushi
- Minczuk, Michal
- Prokisch, Holger
2017
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Molecular genetics and metabolism, 2024-03, Vol.141 (3), p.108144-108144, Article 108144
- Grünert, Sarah C.
- Derks, Terry G.J.
- Mundy, Helen
- Dalton, R. Neil
- Donadieu, Jean
- Hofbauer, Peter
- Jones, Neil
- Uçar, Sema Kalkan
- LaFreniere, Jamas
- Contreras, Enrique Landelino
- Pendyal, Surekha
- Rossi, Alessandro
- Schneider, Blair
- Spiegel, Ronen
- Stepien, Karolina M.
- Wesol-Kucharska, Dorota
- Veiga-da-Cunha, Maria
- Wortmann, Saskia B.
2024
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European journal of paediatric neurology, 2022-11, Vol.41, p.27-35
2022
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American journal of human genetics, 2015-02, Vol.96 (2), p.245-257
- Wortmann, Saskia B.
- Ziętkiewicz, Szymon
- Kousi, Maria
- Szklarczyk, Radek
- Haack, Tobias B.
- Gersting, Søren W.
- Muntau, Ania C.
- Rakovic, Aleksandar
- Renkema, G. Herma
- Rodenburg, Richard J.
- Strom, Tim M.
- Meitinger, Thomas
- Rubio-Gozalbo, M. Estela
- Chrusciel, Elzbieta
- Distelmaier, Felix
- Golzio, Christelle
- Jansen, Joop H.
- van Karnebeek, Clara
- Lillquist, Yolanda
- Lücke, Thomas
- Õunap, Katrin
- Zordania, Riina
- Yaplito-Lee, Joy
- van Bokhoven, Hans
- Spelbrink, Johannes N.
- Vaz, Frédéric M.
- Pras-Raves, Mia
- Ploski, Rafal
- Pronicka, Ewa
- Klein, Christine
- Willemsen, Michel A.A.P.
- de Brouwer, Arjan P.M.
- Prokisch, Holger
- Katsanis, Nicholas
- Wevers, Ron A.
2015
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Molecular genetics and metabolism, 2021-08, Vol.133 (4), p.362-371
2021
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Molecular genetics and metabolism, 2018-01, Vol.123 (1), p.28-42
- O'Byrne, James J.
- Tarailo-Graovac, Maja
- Ghani, Aisha
- Champion, Michael
- Deshpande, Charu
- Dursun, Ali
- Ozgul, Riza K.
- Freisinger, Peter
- Garber, Ian
- Haack, Tobias B.
- Horvath, Rita
- Barić, Ivo
- Husain, Ralf A.
- Kluijtmans, Leo A.J.
- Kotzaeridou, Urania
- Morris, Andrew A.
- Ross, Colin J.
- Santra, Saikat
- Smeitink, Jan
- Tarnopolsky, Mark
- Wortmann, Saskia B.
- Mayr, Johannes A.
- Brunner-Krainz, Michaela
- Prokisch, Holger
- Wasserman, Wyeth W.
- Wevers, Ron A.
- Engelke, Udo F.
- Rodenburg, Richard J.
- Ting, Teck Wah
- McFarland, Robert
- Taylor, Robert W.
- Salvarinova, Ramona
- van Karnebeek, Clara D.M.
2018
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Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.135-146
- Conte, Federica
- Morava, Eva
- Bakar, Nurulamin Abu
- Wortmann, Saskia B.
- Poerink, Anne Jonge
- Grunewald, Stephanie
- Crushell, Ellen
- Al-Gazali, Lihadh
- de Vries, Maaike C.
- Mørkrid, Lars
- Hertecant, Jozef
- Brocke Holmefjord, Katja S.
- Kronn, David
- Feigenbaum, Annette
- Fingerhut, Ralph
- Wong, Sunnie Y.
- van Scherpenzeel, Monique
- Voermans, Nicol C.
- Lefeber, Dirk J.
2020
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American journal of human genetics, 2022-09, Vol.109 (9), p.1692-1712
- Kaiyrzhanov, Rauan
- Mohammed, Sami E.M.
- Maroofian, Reza
- Husain, Ralf A.
- Catania, Alessia
- Torraco, Alessandra
- Alahmad, Ahmad
- Dutra-Clarke, Marina
- Grønborg, Sabine
- Sudarsanam, Annapurna
- Vogt, Julie
- Arrigoni, Filippo
- Baptista, Julia
- Haider, Shahzad
- Feichtinger, René G.
- Bernardi, Paolo
- Zulian, Alessandra
- Gusic, Mirjana
- Efthymiou, Stephanie
- Bai, Renkui
- Bibi, Farah
- Horga, Alejandro
- Martinez-Agosto, Julian A.
- Lam, Amanda
- Manole, Andreea
- Rodriguez, Diego-Perez
- Durigon, Romina
- Pyle, Angela
- Albash, Buthaina
- Dionisi-Vici, Carlo
- Murphy, David
- Martinelli, Diego
- Bugiardini, Enrico
- Allis, Katrina
- Lamperti, Costanza
- Reipert, Siegfried
- Risom, Lotte
- Laugwitz, Lucia
- Di Nottia, Michela
- McFarland, Robert
- Vilarinho, Laura
- Hanna, Michael
- Prokisch, Holger
- Mayr, Johannes A.
- Bertini, Enrico Silvio
- Ghezzi, Daniele
- Østergaard, Elsebet
- Wortmann, Saskia B.
- Carrozzo, Rosalba
- Haack, Tobias B.
- Taylor, Robert W.
- Spinazzola, Antonella
- Nowikovsky, Karin
- Houlden, Henry
2022
Link zum Volltext
Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.342-352
- Haack, Tobias B.
- Gorza, Matteo
- Danhauser, Katharina
- Mayr, Johannes A.
- Haberberger, Birgit
- Wieland, Thomas
- Kremer, Laura
- Strecker, Valentina
- Graf, Elisabeth
- Memari, Yasin
- Ahting, Uwe
- Kopajtich, Robert
- Wortmann, Saskia B.
- Rodenburg, Richard J.
- Kotzaeridou, Urania
- Hoffmann, Georg F.
- Sperl, Wolfgang
- Wittig, Ilka
- Wilichowski, Ekkehard
- Schottmann, Gudrun
- Schuelke, Markus
- Plecko, Barbara
- Stephani, Ulrich
- Strom, Tim M.
- Meitinger, Thomas
- Prokisch, Holger
- Freisinger, Peter
2014
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Journal of the neurological sciences, 2013-03, Vol.326 (1), p.24-28
2013
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Clinica chimica acta, 2017-08, Vol.471, p.95-100
- Rokicki, Dariusz
- Pajdowska, Magdalena
- Trubicka, Joanna
- Thong, Meow-Keong
- Ciara, Elżbieta
- Piekutowska-Abramczuk, Dorota
- Pronicki, Maciej
- Sikora, Roman
- Haidar, Rijad
- Ołtarzewski, Mariusz
- Jabłońska, Ewa
- Muthukumarasamy, Premala
- Sthaneswar, Pavai
- Gan, Chin-Seng
- Krajewska-Walasek, Małgorzata
- Carrozzo, Rosalba
- Verrigni, Daniela
- Semeraro, Michela
- Rizzo, Cristiano
- Taurisano, Roberta
- Alhaddad, Bader
- Kovacs-Nagy, Reka
- Haack, Tobias B.
- Dionisi-Vici, Carlo
- Pronicka, Ewa
- Wortmann, Saskia B.
2017
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Mitochondrion, 2013-01, Vol.13 (1), p.15-24
2013
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European journal of paediatric neurology, 2017-06, Vol.21, p.e176-e176
2017
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Neuromuscular disorders : NMD, 2015-03, Vol.25 (3), p.262-267
2015
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Molecular genetics and metabolism, 2011-12, Vol.104 (4), p.691-694
2011
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