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	401.	International Paediatric Mitochondrial Disease Scale. [electronic resource] by Koene, Saskia Hendriks, Jan C M Dirks, Ilse de Boer, Lonneke de Vries, Maaike C Janssen, Mirian C H Smuts, Izelle Fung, Cheuk-Wing Wong, Virginia C N de Coo, I René F M Vill, Katharina Stendel, Claudia Klopstock, Thomas Falk, Marni J McCormick, Elizabeth M McFarland, Robert de Groot, Imelda J M Smeitink, Jan A M Producer: 20171206 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	402.	Variable BCG efficacy in rhesus populations: Pulmonary BCG provides protection where standard intra-dermal vaccination fails. [electronic resource] by Verreck, Frank A W Tchilian, Elma Z Vervenne, Richard A W Sombroek, Claudia C Kondova, Ivanela Eissen, Okke A Sommandas, Vinod van der Werff, Nicole M Verschoor, Ernst Braskamp, Gerco Bakker, Jaco Langermans, Jan A M Heidt, Peter J Ottenhoff, Tom H M van Kralingen, Klaas W Thomas, Alan W Beverley, Peter C L Kocken, Clemens H M Producer: 20180313 In: Tuberculosis (Edinburgh, Scotland) vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	403.	Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. [electronic resource] by Janssen, Antoon J M Schuelke, Markus Smeitink, Jan A M Trijbels, Frans J M Sengers, Rob C A Lucke, Barbara Wintjes, Liesbeth T M Morava, Eva van Engelen, Baziel G M Smits, Bart W Hol, Frans A Siers, Marloes H Ter Laak, Henk van der Knaap, Marjo S Van Spronsen, Francjan J Rodenburg, Richard J T van den Heuvel, Lambert P Producer: 20080602 In: Annals of neurology vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	404.	Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. [electronic resource] by Wortmann, Saskia B van Hasselt, Peter M Barić, Ivo Burlina, Alberto Darin, Niklas Hörster, Friederike Coker, Mahmut Ucar, Sema Kalkan Krumina, Zita Naess, Karin Ngu, Lock H Pronicka, Ewa Riordan, Gilian Santer, Rene Wassmer, Evangeline Zschocke, Johannes Schiff, Manuel de Meirleir, Linda Alowain, Mohammed A Smeitink, Jan A M Morava, Eva Kozicz, Tamas Wevers, Ron A Wolf, Nicole I Willemsen, Michel A Producer: 20151215 In: Neuropediatrics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	405.	Apparent Lack of [electronic resource] by Kemps, Paul G Zondag, Timo C Steenwijk, Eline C Andriessen, Quirine Borst, Jelske Vloemans, Sandra Roelen, Dave L Voortman, Lenard M Verdijk, Robert M van Noesel, Carel J M Cleven, Arjen H G Hawkins, Cynthia Lang, Veronica de Ru, Arnoud H Janssen, George M C Haasnoot, Geert W Franken, Kees L M C van Eijk, Ronald Solleveld-Westerink, Nienke van Wezel, Tom Egeler, R Maarten Beishuizen, Auke van Laar, Jan A M Abla, Oussama van den Bos, Cor van Veelen, Peter A van Halteren, Astrid G S Producer: 20201104 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	406.	Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. [electronic resource] by Van den Hout, Johanna M P Kamphoven, Joep H J Winkel, Léon P F Arts, Willem F M De Klerk, Johannes B C Loonen, M Christa B Vulto, Arnold G Cromme-Dijkhuis, Adri Weisglas-Kuperus, Nynke Hop, Wim Van Hirtum, Hans Van Diggelen, Otto P Boer, Marijke Kroos, Marian A Van Doorn, Pieter A Van der Voort, Edwin Sibbles, Barbara Van Corven, Emiel J J M Brakenhoff, Just P J Van Hove, Johan Smeitink, Jan A M de Jong, Gerard Reuser, Arnold J J Van der Ploeg, Ans T Producer: 20040809 In: Pediatrics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	407.	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. [electronic resource] by Wortmann, Saskia B Vaz, Frédéric M Gardeitchik, Thatjana Vissers, Lisenka E L M Renkema, G Herma Schuurs-Hoeijmakers, Janneke H M Kulik, Wim Lammens, Martin Christin, Christin Kluijtmans, Leo A J Rodenburg, Richard J Nijtmans, Leo G J Grünewald, Anne Klein, Christine Gerhold, Joachim M Kozicz, Tamas van Hasselt, Peter M Harakalova, Magdalena Kloosterman, Wigard Barić, Ivo Pronicka, Ewa Ucar, Sema Kalkan Naess, Karin Singhal, Kapil K Krumina, Zita Gilissen, Christian van Bokhoven, Hans Veltman, Joris A Smeitink, Jan A M Lefeber, Dirk J Spelbrink, Johannes N Wevers, Ron A Morava, Eva de Brouwer, Arjan P M Producer: 20121105 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	408.	A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. [electronic resource] by Neveling, Kornelia Feenstra, Ilse Gilissen, Christian Hoefsloot, Lies H Kamsteeg, Erik-Jan Mensenkamp, Arjen R Rodenburg, Richard J T Yntema, Helger G Spruijt, Liesbeth Vermeer, Sascha Rinne, Tuula van Gassen, Koen L Bodmer, Danielle Lugtenberg, Dorien de Reuver, Rick Buijsman, Wendy Derks, Ronny C Wieskamp, Nienke van den Heuvel, Bert Ligtenberg, Marjolijn J L Kremer, Hannie Koolen, David A van de Warrenburg, Bart P C Cremers, Frans P M Marcelis, Carlo L M Smeitink, Jan A M Wortmann, Saskia B van Zelst-Stams, Wendy A G Veltman, Joris A Brunner, Han G Scheffer, Hans Nelen, Marcel R Producer: 20140616 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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