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Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824
- Kremer, Laura S
- Bader, Daniel M
- Mertes, Christian
- Kopajtich, Robert
- Pichler, Garwin
- Iuso, Arcangela
- Haack, Tobias B
- Graf, Elisabeth
- Schwarzmayr, Thomas
- Terrile, Caterina
- Koňaříková, Eliška
- Repp, Birgit
- Kastenmüller, Gabi
- Adamski, Jerzy
- Lichtner, Peter
- Leonhardt, Christoph
- Funalot, Benoit
- Donati, Alice
- Tiranti, Valeria
- Lombes, Anne
- Jardel, Claude
- Gläser, Dieter
- Taylor, Robert W
- Ghezzi, Daniele
- Mayr, Johannes A
- Rötig, Agnes
- Freisinger, Peter
- Distelmaier, Felix
- Strom, Tim M
- Meitinger, Thomas
- Gagneur, Julien
- Prokisch, Holger
2017
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Journal of inherited metabolic disease, 2014-07, Vol.37 (4), p.553-563
2014
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Journal of medical genetics, 2016-04, Vol.53 (4), p.270-278
2016
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American journal of human genetics, 2011-12, Vol.89 (6), p.792-797
2011
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American journal of human genetics, 2016-10, Vol.99 (4), p.894-902
- Kremer, Laura S.
- Danhauser, Katharina
- Herebian, Diran
- Petkovic Ramadža, Danijela
- Piekutowska-Abramczuk, Dorota
- Seibt, Annette
- Müller-Felber, Wolfgang
- Haack, Tobias B.
- Płoski, Rafał
- Lohmeier, Klaus
- Schneider, Dominik
- Klee, Dirk
- Rokicki, Dariusz
- Mayatepek, Ertan
- Strom, Tim M.
- Meitinger, Thomas
- Klopstock, Thomas
- Pronicka, Ewa
- Mayr, Johannes A.
- Baric, Ivo
- Distelmaier, Felix
- Prokisch, Holger
2016
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American journal of human genetics, 2012-02, Vol.90 (2), p.314-320
- Mayr, Johannes A.
- Haack, Tobias B.
- Graf, Elisabeth
- Zimmermann, Franz A.
- Wieland, Thomas
- Haberberger, Birgit
- Superti-Furga, Andrea
- Kirschner, Janbernd
- Steinmann, Beat
- Baumgartner, Matthias R.
- Moroni, Isabella
- Lamantea, Eleonora
- Zeviani, Massimo
- Rodenburg, Richard J.
- Smeitink, Jan
- Strom, Tim M.
- Meitinger, Thomas
- Sperl, Wolfgang
- Prokisch, Holger
2012
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Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.909-917
2019
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Brain (London, England : 1878), 2017-02, Vol.140 (2), p.e11-e11
2017
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Biochemical and biophysical research communications, 2015-08, Vol.464 (2), p.369-375
2015
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American journal of human genetics, 2015-02, Vol.96 (2), p.309-317
- Brea-Calvo, Gloria
- Haack, Tobias B.
- Karall, Daniela
- Ohtake, Akira
- Invernizzi, Federica
- Carrozzo, Rosalba
- Kremer, Laura
- Dusi, Sabrina
- Fauth, Christine
- Scholl-Bürgi, Sabine
- Graf, Elisabeth
- Ahting, Uwe
- Resta, Nicoletta
- Laforgia, Nicola
- Verrigni, Daniela
- Okazaki, Yasushi
- Kohda, Masakazu
- Martinelli, Diego
- Freisinger, Peter
- Strom, Tim M.
- Meitinger, Thomas
- Lamperti, Costanza
- Lacson, Atilano
- Navas, Placido
- Mayr, Johannes A.
- Bertini, Enrico
- Murayama, Kei
- Zeviani, Massimo
- Prokisch, Holger
- Ghezzi, Daniele
2015
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American journal of human genetics, 2014-12, Vol.95 (6), p.708-720
- Kopajtich, Robert
- Nicholls, Thomas J.
- Rorbach, Joanna
- Metodiev, Metodi D.
- Freisinger, Peter
- Mandel, Hanna
- Vanlander, Arnaud
- Ghezzi, Daniele
- Carrozzo, Rosalba
- Taylor, Robert W.
- Marquard, Klaus
- Murayama, Kei
- Wieland, Thomas
- Schwarzmayr, Thomas
- Mayr, Johannes A.
- Pearce, Sarah F.
- Powell, Christopher A.
- Saada, Ann
- Ohtake, Akira
- Invernizzi, Federica
- Lamantea, Eleonora
- Sommerville, Ewen W.
- Pyle, Angela
- Chinnery, Patrick F.
- Crushell, Ellen
- Okazaki, Yasushi
- Kohda, Masakazu
- Kishita, Yoshihito
- Tokuzawa, Yoshimi
- Assouline, Zahra
- Rio, Marlène
- Feillet, François
- Mousson de Camaret, Bénédict
- Chretien, Dominique
- Munnich, Arnold
- Menten, Björn
- Sante, Tom
- Smet, Joél
- Régal, Luc
- Lorber, Abraham
- Khoury, Asaad
- Zeviani, Massimo
- Strom, Tim M.
- Meitinger, Thomas
- Bertini, Enrico S.
- Van Coster, Rudy
- Klopstock, Thomas
- Rötig, Agnès
- Haack, Tobias B.
- Minczuk, Michal
- Prokisch, Holger
2014
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American journal of human genetics, 2018-04, Vol.102 (4), p.685-695
- Gardeitchik, Thatjana
- Mohamed, Miski
- Ruzzenente, Benedetta
- Karall, Daniela
- Guerrero-Castillo, Sergio
- Dalloyaux, Daisy
- van den Brand, Mariël
- van Kraaij, Sanne
- van Asbeck, Ellyze
- Assouline, Zahra
- Rio, Marlene
- de Lonlay, Pascale
- Scholl-Buergi, Sabine
- Wolthuis, David F.G.J.
- Hoischen, Alexander
- Rodenburg, Richard J.
- Sperl, Wolfgang
- Urban, Zsolt
- Brandt, Ulrich
- Mayr, Johannes A.
- Wong, Sunnie
- de Brouwer, Arjan P.M.
- Nijtmans, Leo
- Munnich, Arnold
- Rötig, Agnès
- Wevers, Ron A.
- Metodiev, Metodi D.
- Morava, Eva
2018
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American journal of human genetics, 2016-08, Vol.99 (2), p.414-422
- Kopajtich, Robert
- Murayama, Kei
- Janecke, Andreas R.
- Haack, Tobias B.
- Breuer, Maximilian
- Knisely, A.S.
- Harting, Inga
- Ohashi, Toya
- Okazaki, Yasushi
- Watanabe, Daisaku
- Tokuzawa, Yoshimi
- Kotzaeridou, Urania
- Kölker, Stefan
- Sauer, Sven
- Carl, Matthias
- Straub, Simon
- Entenmann, Andreas
- Gizewski, Elke
- Feichtinger, René G.
- Mayr, Johannes A.
- Lackner, Karoline
- Strom, Tim M.
- Meitinger, Thomas
- Müller, Thomas
- Ohtake, Akira
- Hoffmann, Georg F.
- Prokisch, Holger
- Staufner, Christian
2016
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American journal of human genetics, 2013-08, Vol.93 (2), p.211-223
- Haack, Tobias B.
- Kopajtich, Robert
- Freisinger, Peter
- Wieland, Thomas
- Rorbach, Joanna
- Nicholls, Thomas J.
- Baruffini, Enrico
- Walther, Anett
- Danhauser, Katharina
- Zimmermann, Franz A.
- Husain, Ralf A.
- Schum, Jessica
- Mundy, Helen
- Ferrero, Ileana
- Strom, Tim M.
- Meitinger, Thomas
- Taylor, Robert W.
- Minczuk, Michal
- Mayr, Johannes A.
- Prokisch, Holger
2013
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American journal of human genetics, 2018-10, Vol.103 (4), p.592-601
- Alston, Charlotte L.
- Heidler, Juliana
- Dibley, Marris G.
- Kremer, Laura S.
- Taylor, Lucie S.
- Fratter, Carl
- French, Courtney E.
- Glasgow, Ruth I.C.
- Feichtinger, René G.
- Delon, Isabelle
- Pagnamenta, Alistair T.
- Dolling, Helen
- Lemonde, Hugh
- Aiton, Neil
- Bjørnstad, Alf
- Henneke, Lisa
- Gärtner, Jutta
- Thiele, Holger
- Tauchmannova, Katerina
- Quaghebeur, Gerardine
- Houstek, Josef
- Sperl, Wolfgang
- Raymond, F. Lucy
- Prokisch, Holger
- Mayr, Johannes A.
- McFarland, Robert
- Poulton, Joanna
- Ryan, Michael T.
- Wittig, Ilka
- Henneke, Marco
- Taylor, Robert W.
2018
Link zum Volltext
American journal of human genetics, 2013-09, Vol.93 (3), p.482-495
- Gai, Xiaowu
- Ghezzi, Daniele
- Johnson, Mark A.
- Biagosch, Caroline A.
- Shamseldin, Hanan E.
- Haack, Tobias B.
- Reyes, Aurelio
- Tsukikawa, Mai
- Sheldon, Claire A.
- Srinivasan, Satish
- Gorza, Matteo
- Kremer, Laura S.
- Wieland, Thomas
- Strom, Tim M.
- Polyak, Erzsebet
- Place, Emily
- Consugar, Mark
- Ostrovsky, Julian
- Vidoni, Sara
- Robinson, Alan J.
- Wong, Lee-Jun
- Sondheimer, Neal
- Salih, Mustafa A.
- Al-Jishi, Emtethal
- Raab, Christopher P.
- Bean, Charles
- Furlan, Francesca
- Parini, Rossella
- Lamperti, Costanza
- Mayr, Johannes A.
- Konstantopoulou, Vassiliki
- Huemer, Martina
- Pierce, Eric A.
- Meitinger, Thomas
- Freisinger, Peter
- Sperl, Wolfgang
- Prokisch, Holger
- Alkuraya, Fowzan S.
- Falk, Marni J.
- Zeviani, Massimo
2013
Link zum Volltext
American journal of human genetics, 2016-09, Vol.99 (3), p.674-682
- Kennedy, Hannah
- Haack, Tobias B.
- Hartill, Verity
- Mataković, Lavinija
- Baumgartner, E. Regula
- Potter, Howard
- Mackay, Richard
- Alston, Charlotte L.
- O’Sullivan, Siobhan
- McFarland, Robert
- Connolly, Grainne
- Gannon, Caroline
- King, Richard
- Mead, Scott
- Crozier, Ian
- Chan, Wandy
- Florkowski, Chris M.
- Sage, Martin
- Höfken, Thomas
- Alhaddad, Bader
- Kremer, Laura S.
- Kopajtich, Robert
- Feichtinger, René G.
- Sperl, Wolfgang
- Rodenburg, Richard J.
- Minet, Jean Claude
- Dobbie, Angus
- Strom, Tim M.
- Meitinger, Thomas
- George, Peter M.
- Johnson, Colin A.
- Taylor, Robert W.
- Prokisch, Holger
- Doudney, Kit
- Mayr, Johannes A.
2016
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Frontiers in neurology, 2023-01, Vol.13, p.1063733
2023
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Case reports in orthopedics, 2022-03, Vol.2022, p.5908666-4
2022
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Case reports in orthopedics, 2022-03, Vol.2022, p.8253096-6
2022
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EMBO molecular medicine, 2021-09, Vol.13 (9), p.e14332-n/a
2021
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Case reports in orthopedics, 2022-04, Vol.2022, p.6041577-5
2022
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BMC medical genetics, 2020-07, Vol.21 (1), p.153-153, Article 153
2020
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Case reports in orthopedics, 2022-04, Vol.2022, p.1843367-6
2022
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Genetics in medicine, 2021-09, Vol.23 (9), p.1705-1714
- Wortmann, Saskia B
- Ziętkiewicz, Szymon
- Guerrero-Castillo, Sergio
- Feichtinger, René G
- Wagner, Matias
- Russell, Jacqui
- Ellaway, Carolyn
- Mróz, Dagmara
- Wyszkowski, Hubert
- Weis, Denisa
- Hannibal, Iris
- von Stülpnagel, Celina
- Cabrera-Orefice, Alfredo
- Lichter-Konecki, Uta
- Gaesser, Jenna
- Windreich, Randy
- Myers, Kasiani C
- Lorsbach, Robert
- Dale, Russell C
- Gersting, Søren
- Prada, Carlos E
- Christodoulou, John
- Wolf, Nicole I
- Venselaar, Hanka
- Mayr, Johannes A
- Wevers, Ron A
2021
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