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Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.211-225
2012
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Journal of inherited metabolic disease, 2011-04, Vol.34 (2), p.283-292
2011
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Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1059-1069
2012
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European journal of heart failure, 2018-05, Vol.20 (5), p.910-919
2018
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Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.437-443
2015
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Biochimica et biophysica acta, 2016-07, Vol.1857 (7), p.938-945
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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Cell metabolism, 2015-09, Vol.22 (3), p.399-407
2015
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Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.92-92
2024
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Nature genetics, 2018-01, Vol.50 (1), p.120-129
- Pol, Arjan
- Renkema, G Herma
- Tangerman, Albert
- Winkel, Edwin G
- Engelke, Udo F
- de Brouwer, Arjan P M
- Lloyd, Kent C
- Araiza, Renee S
- van den Heuvel, Lambert
- Omran, Heymut
- Olbrich, Heike
- Oude Elberink, Marijn
- Gilissen, Christian
- Rodenburg, Richard J
- Sass, Jörn Oliver
- Schwab, K Otfried
- Schäfer, Hendrik
- Venselaar, Hanka
- Sequeira, J Silvia
- Op den Camp, Huub J M
- Wevers, Ron A
2018
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Clinical chemistry (Baltimore, Md.), 2007-04, Vol.53 (4), p.729-734
2007
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Brain (London, England : 1878), 2013-05, Vol.136 (Pt 5), p.1544-1554
2013
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Human molecular genetics, 2012-10, Vol.21 (19), p.4151-4161
- TIMAL, Sharita
- HOISCHEN, Alexander
- GILISSEN, Christian
- RODENBURG, Richard J
- EIDHOF, Ilse
- VAN DEN HEUVEL, Lambert
- THIEL, Christian
- WEVERS, Ron A
- MORAVA, Eva
- VELTMAN, Joris
- LEFEBER, Dirk J
- LEHLE, Ludwig
- ADAMOWICZ, Maciej
- HUIJBEN, Karin
- SYKUT-CEGIELSKA, Jolanta
- PAPROCKA, Justyna
- JAMROZ, Ewa
- VAN SPRONSEN, Francjan J
- KÖRNER, Christian
2012
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International journal of molecular sciences, 2023-05, Vol.24 (9), p.8247
2023
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The journal of clinical endocrinology and metabolism, 2018-01, Vol.103 (1), p.75-84
2018
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EMBO molecular medicine, 2016-04, Vol.8 (4), p.311-327
2016
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American journal of human genetics, 2016-10, Vol.99 (4), p.860-876
- Thompson, Kyle
- Majd, Homa
- Dallabona, Cristina
- Reinson, Karit
- King, Martin S.
- Alston, Charlotte L.
- He, Langping
- Lodi, Tiziana
- Jones, Simon A.
- Fattal-Valevski, Aviva
- Fraenkel, Nitay D.
- Saada, Ann
- Haham, Alon
- Isohanni, Pirjo
- Vara, Roshni
- Barbosa, Inês A.
- Simpson, Michael A.
- Deshpande, Charu
- Puusepp, Sanna
- Bonnen, Penelope E.
- Rodenburg, Richard J.
- Suomalainen, Anu
- Õunap, Katrin
- Elpeleg, Orly
- Ferrero, Ileana
- McFarland, Robert
- Kunji, Edmund R.S.
- Taylor, Robert W.
2016
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Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.32-32, Article 32
- Kwong, Anna Ka-Yee
- Tsang, Mandy Ho-Yin
- Fung, Jasmine Lee-Fong
- Mak, Christopher Chun-Yu
- Chan, Kate Lok-San
- Rodenburg, Richard J T
- Lek, Monkol
- Huang, Shushu
- Pajusalu, Sander
- Yau, Man-Mut
- Tsoi, Cheung
- Fung, Sharon
- Liu, Kam-Tim
- Ma, Che-Kwan
- Wong, Sheila
- Yau, Eric Kin-Cheong
- Tai, Shuk-Mui
- Fung, Eva Lai-Wah
- Wu, Nick Shun-Ping
- Tsung, Li-Yan
- Smeitink, Jan
- Chung, Brian Hon-Yin
- Fung, Cheuk-Wing
2021
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American journal of human genetics, 2014-09, Vol.95 (3), p.315-325
- Melchionda, Laura
- Haack, Tobias B.
- Hardy, Steven
- Abbink, Truus E.M.
- Fernandez-Vizarra, Erika
- Lamantea, Eleonora
- Marchet, Silvia
- Morandi, Lucia
- Moggio, Maurizio
- Carrozzo, Rosalba
- Torraco, Alessandra
- Diodato, Daria
- Strom, Tim M.
- Meitinger, Thomas
- Tekturk, Pinar
- Yapici, Zuhal
- Al-Murshedi, Fathiya
- Stevens, René
- Rodenburg, Richard J.
- Lamperti, Costanza
- Ardissone, Anna
- Moroni, Isabella
- Uziel, Graziella
- Prokisch, Holger
- Taylor, Robert W.
- Bertini, Enrico
- van der Knaap, Marjo S.
- Ghezzi, Daniele
- Zeviani, Massimo
2014
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Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.297-307
2018
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American journal of human genetics, 2016-02, Vol.98 (2), p.322-330
- Jansen, Jos C.
- Timal, Sharita
- van Scherpenzeel, Monique
- Michelakakis, Helen
- Vicogne, Dorothée
- Ashikov, Angel
- Moraitou, Marina
- Hoischen, Alexander
- Huijben, Karin
- Steenbergen, Gerry
- van den Boogert, Marjolein A.W.
- Porta, Francesco
- Calvo, Pier Luigi
- Mavrikou, Mersyni
- Cenacchi, Giovanna
- van den Bogaart, Geert
- Salomon, Jody
- Holleboom, Adriaan G.
- Rodenburg, Richard J.
- Drenth, Joost P.H.
- Huynen, Martijn A.
- Wevers, Ron A.
- Morava, Eva
- Foulquier, François
- Veltman, Joris A.
- Lefeber, Dirk J.
2016
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PLoS biology, 2019-09, Vol.17 (9), p.e3000414-e3000414
2019
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American journal of human genetics, 2015-08, Vol.97 (2), p.319-328
- Powell, Christopher A.
- Kopajtich, Robert
- D’Souza, Aaron R.
- Rorbach, Joanna
- Kremer, Laura S.
- Husain, Ralf A.
- Dallabona, Cristina
- Donnini, Claudia
- Alston, Charlotte L.
- Griffin, Helen
- Pyle, Angela
- Chinnery, Patrick F.
- Strom, Tim M.
- Meitinger, Thomas
- Rodenburg, Richard J.
- Schottmann, Gudrun
- Schuelke, Markus
- Romain, Nadine
- Haller, Ronald G.
- Ferrero, Ileana
- Haack, Tobias B.
- Taylor, Robert W.
- Prokisch, Holger
- Minczuk, Michal
2015
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Cardiovascular research, 2016-09, Vol.111 (4), p.362-372
2016
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PloS one, 2013-10, Vol.8 (10), p.e76831-e76831
- Salih, Mustafa A
- Mundwiller, Emeline
- Khan, Arif O
- AlDrees, Abdulmajeed
- Elmalik, Salah A
- Hassan, Hamdy H
- Al-Owain, Mohammed
- Alkhalidi, Hisham M S
- Katona, Istvan
- Kabiraj, Mohammad M
- Chrast, Roman
- Kentab, Amal Y
- Alzaidan, Hamad
- Rodenburg, Richard J
- Bosley, Thomas M
- Weis, Joachim
- Koenig, Michel
- Stevanin, Giovanni
- Azzedine, Hamid
- Palau, Francesc
2013
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