المؤلفون: Theunissen, T.E.J. (Tom E.J.), Szklarczyk, R. (Radek), Gerards, M. (Mike), Hellebrekers, D.M.E.I. (Debby), Mulder-Den Hartog, E.N.M. (Elvira N.M.), Vanoevelen, J. (Jo), Kamps, R. (Rick), De Koning, B. (Bart), Lane Rutledge, S., Schmitt-Mechelke, T. (Thomas), Berkel, C.G.M. (Carola) van, Knaap, M.S. (Marjo) van der, Coo, I.F.M. (René) de, Smeets, H.J.M. (Hubert)

المصدر: Frontiers in Neurology vol. 7 no. NOV

مصطلحات موضوعية: Brain-MRI, CLPP, Genetic diagnosis, Perrault syndrome, Perrault syndrome type 3

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/94954; urn:hdl:1765/94954

الاتاحة: http://repub.eur.nl/pub/94954
https://doi.org/10.3389/fneur.2016.00203

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

الاتاحة: http://repub.eur.nl/pub/66522
https://doi.org/10.1136/jmedgenet-2013-101658

المؤلفون: van de Kamp, J.M. (Jiddeke M.), Pouwels, P.J.W. (Petra J.W.), Aarsen, F.K. (Femke), ten Hoopen, L.W. (Leontine W.), Knol, D.L. (Dirk L.), Klerk, J.B.C. (Johannes) de, Coo, I.F.M. (René) de, Huijmans, J.G.M. (Jan), Jakobs, C. (Cornelis), Knaap, M.S. (Marjo) van der, Salomons, G.S. (Gajja S.), Mancini, G.M.S. (Grazia)

المصدر: Journal of Inherited Metabolic Disease, pp. 1-9

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/25734; urn:hdl:1765/25734

الاتاحة: http://repub.eur.nl/pub/25734
https://doi.org/10.1007/s10545-011-9345-1

المؤلفون: Willemsen, M.A. (Michél), Verbeek, M.M. (Marcel), Kamsteeg, E.J. (Erik-Jan), Rijk-Van Andel, J.F. (Johanneke) de, Aeby, A. (Alec), Blau, N. (Nenad), Burlina, A.B. (Alberto), Donati, M.A. (Maria), Geurtz, B. (Ben), Grattan-Smith, P.J. (Padraic), Haeussler, M. (Martin), Hoffmann, G.F. (Georg), Jung, H. (Hans), Klerk, J.B.C. (Johannes) de, Knaap, M.S. (Marjo) van der, Kok, F. (Fernando), Leuzzi, V. (Vincenzo), Lonlay, P. (Pascale) de, Megarbane, A. (Andre), Monaghan, H. (Hugh), Renier, W.O. (Willy), Rondot, P. (Pierre), Ryan, M.M. (Monique), Seeger, J. (Jürgen), Smeitink, J.A.M. (Jan), Steenbergen-Spanjers, G.C. (Gerry), Wassmer, E. (Evangeline), Weschke, B. (Bernhard), Wijburg, F.A. (Frits), Wilcken, B. (Bridget), Zafeiriou, D.I. (Dimitrios), Wevers, R.A. (Ron)

المصدر: Brain: a journal of neurology vol. 133 no. 6, pp. 1810-1822

مصطلحات موضوعية: Cerebrospinal fluid, Dystonia, L-dopa, Neurotransmitters, Tyrosine hydroxylase

Relation: http://repub.eur.nl/pub/27454; urn:hdl:1765/27454

الاتاحة: http://repub.eur.nl/pub/27454
https://doi.org/10.1093/brain/awq087

المؤلفون: Betsalel, O.T. (Ofir), van de Kamp, J.M. (Jiddeke M.), Martínez-Muñoz, C. (Cristina), Rosenberg, E.H. (Efraim), Brouwer, A.P.M. (Arjan) de, Pouwels, P.J.W. (Petra), Knaap, M.S. (Marjo) van der, Mancini, G.M.S. (Grazia), Jakobs, C. (Cornelis), Hamel, B.C. (Ben), Salomons, G.S. (Gajja)

المصدر: Neurogenetics vol. 9 no. 3, pp. 183-190

مصطلحات موضوعية: Creatine transporter deficiency, DHPLC, Germline mosaicism, Low-level somatic mosaicism, SLC6A8, X-linked mental retardation

Relation: http://repub.eur.nl/pub/30290; urn:hdl:1765/30290

الاتاحة: http://repub.eur.nl/pub/30290
https://doi.org/10.1007/s10048-008-0125-5

المؤلفون: Geest, F.S. (Ferdy) van, Meima, M.E. (Marcel), Stuurman, K.E. (Kyra), Wolf, N.I. (Nicole), Knaap, M.S. (Marjo) van der, C.F. (Cláudia) Lorea, F.O. (Fabiano) Poswar, F. (Filippo) Vairo, Brunetti-Pierri, N. (Nicola), G. (Gerarda) Cappuccio, P. (Priyanka) Bakhtiani, Munnik, S.A. (Sonja) de, Peeters, R.P. (Robin), Visser, W.E. (Edward), Groeneweg, S. (Stefan)

المصدر: Journal of Clinical Endocrinology and Metabolism vol. forthcoming (submitted)

وصف الملف: application/pdf

Relation: https://repub.eur.nl/pub/126612; urn:hdl:1765/126612

الاتاحة: https://repub.eur.nl/pub/126612