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3Academic Journal
المؤلفون: Repp, B.M. (Birgit M.), Mastantuono, E. (Elisa), Alston, C.L. (Charlotte L.), Schiff, M. (Manuel), Haack, T.B. (Tobias B.), Rötig, A. (Agns), Ardissone, A. (Anna), Lombès, A. (Anne), Catarino, C.F.B.S., Diodato, D. (Daria), Schottmann, G. (Gudrun), Poulton, J. (Joanna), Burlina, A.B. (Alberto), Jonckheere, A. (An), Munnich, A. (Arnold), Rolinski, B. (Boris), Ghezzi, D. (Daniele), Rokicki, D. (Dariusz), Wellesley, D. (Diana), Martinelli, D. (Diego), Wenhong, D. (Ding), Lamantea, E. (Eleonora), Østergaard, E. (Elsebet), Pronicka, E. (Ewa), Pierre, G. (Germaine), Smeets, H.J.M. (Hubert), Wittig, I. (Ilka), Scurr, I. (Ingrid), Coo, I.F.M. (René) de, Moroni, I. (Isabella), Smet, J. (Joél), Mayr, J.A. (Johannes A.), Dai, L. (Lifang), Meirleir, L. (Linda) de, Schuelke, M. (Markus), Zeviani, M. (Massimo), Morscher, R.J. (Raphael J.), McFarland, R. (Robert), Seneca, S. (S.), Klopstock, T. (Thomas), Meitinger, T. (Thomas), Wieland, T. (Thomas), Strom, T.M. (Tim), Herberg, U. (Ulrike), Ahting, U. (Uwe), Sperl, W. (Wolfgang), Nassogne, M.C. (M.), Ling, H. (Han), Fang, F. (Fang), Freisinger, P. (Peter), Coster, R.N.A. (R. N A) van, Strecker, V. (Valentina), Taylor, R.W. (Robert William), Häberle, J. (Johannes), Vockley, J. (Jerry), Prokisch, H. (Holger), Wortmann, S.B. (S.)
المصدر: Orphanet journal of rare diseases vol. 13 no. 1
مصطلحات موضوعية: Activities of daily living, Cardiomyopathy, Complex I, Heart transplantation, Lactic acidosis, Mitochondrial disorder, Neonatal, Prognosis, Treatment, Vitamin
وصف الملف: application/pdf
Relation: info:eu-repo/grantAgreement/EC/FP7/317433; http://repub.eur.nl/pub/109529; urn:hdl:1765/109529
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6Academic Journal
المؤلفون: Tonin, Y. (Yann), Heckel, A. (Anne-Marie), Vysokikh, M. (Mikhail), Dovydenko, I. (Ilya), Meschaninova, M. (Mariya), Rötig, A. (Agnès), Munnich, A. (Arnold), Venyaminova, A. (Alya), Tarassov, I. (Ivan), Entelis, N. (Nina)
مصطلحات موضوعية: Sciences du Vivant [q-bio]/Biochimie, Biologie Moléculaire
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7Academic Journal
المؤلفون: van de Kamp, J.M. (Jiddeke M.), Betsalel, O.T. (Ofir), Mercimek-Mahmutoglu, S. (Saadet), Abulhoul, L. (L.), Grünewald, S. (Sonja), Anselm, I. (I.), Azzouz, H. (H.), Bratkovic, D. (D.), Brouwer, A.P.M. (Arjan) de, Hamel, B.C. (Ben), Kleefstra, T. (Tjitske), Yntema, H.G., Campistol, J.M., Vilaseca, M.A. (M.), Cheillan, D. (David), D'Hooghe, M. (M.), Diogo, L. (Luisa), Garcia, P. (Paula), Valongo, C. (C.), Fonseca, M. (M.), Frints, S.G.M. (Suzanna), Wilcken, B. (Bridget), Haar, S. (Sigrun) von der, Meijers-Heijboer, E.J. (Hanne), Hofstede, F.C. (Floris), Johnson, D. (David), Kant, S.G. (Sarina), Lion-Francois, L. (Laurence), Pitelet, G. (G.), Longo, N. (N.), Maat-Kievit, A.A. (Anneke), Monteiro, J.P. (J.), Munnich, A. (Arnold), Muntau, A.C. (A.), Nassogne, M.C. (M.), Osaka, H. (H.), Õunap, K. (Katrin), Pinard, J.M. (J.), Quijano-Roy, S. (S.), Poggenburg, I. (I.), Poplawski, N. (Nicola), Abdul-Rahman, O.A. (Omar), Ribes, A. (A.), Arias Pérez, J.I. (José Ignacio), Yaplito-Lee, J. (J.), Schulze, A. (A.), Schwartz, C.E., Schwenger, S. (S.), Soares, G. (G.), Sznajer, Y. (Yves), Valayannopoulos, V. (Vassili), Esch, H. (Hilde) van, Waltz, S. (S.), Wamelink, M.M.C. (Mirjam), Pouwels, P.J.W. (Petra), Errami, A. (Abdellatif), Knaap, M.S. (Marjo) van der, Jakobs, C. (Cornelis), Mancini, G.M.S. (Grazia), Salomons, G.S. (Gajja)
المصدر: Journal of Medical Genetics vol. 50 no. 7, pp. 463-472
Relation: http://repub.eur.nl/pub/66522; urn:hdl:1765/66522
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8Academic Journal
المؤلفون: Jannot, A-S. (Anne-Sophie), Pelet, A. (Anna), Henrion-Caude, A. (Alexandra), Chaoui, A. (Asma), Masse-Morel, M. (Marine), Arnold, S. (Stacey), Sanlaville, D. (Damien), Ceccherini, I. (Isabella), Borrego, S. (Salud), Hofstra, R.M.W. (Robert), Munnich, A. (Arnold), Bondurand, N. (Nadège), Chakravarti, A. (Aravinda), Clerget-Darpoux, F. (Françoise), Amiel, J. (Jeanne), Lyonnet, S. (Stanislas)
المصدر: PLoS ONE vol. 8 no. 5
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/69591; urn:hdl:1765/69591