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	21.	Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation. [electronic resource] by Jacobs, L J A M de Coo, I F M Nijland, J G Galjaard, R J H Los, F J Schoonderwoerd, K Niermeijer, M F Geraedts, J P M Scholte, H R Smeets, H J M Producer: 20051103 In: Molecular human reproduction vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency. [electronic resource] by de Wit, M C Y de Coo, I F M Verbeek, E Schot, R Schoonderwoerd, G C Duran, M de Klerk, J B C Huijmans, J G M Lequin, M H Verheijen, F W Mancini, G M S Producer: 20060508 In: Molecular genetics and metabolism vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. [electronic resource] by Hudson, Gavin Keers, Sharon Yu-Wai-Man, Patrick Griffiths, Philip Huoponen, Kirsi Savontaus, Marja-Liisa Nikoskelainen, Eeva Zeviani, Massimo Carrara, Franco Horvath, Rita Karcagi, Veronika Spruijt, Liesbeth de Coo, I F M Smeets, Hubert J M Chinnery, Patrick F Producer: 20060130 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disorders. [electronic resource] by Voets, A M Lindsey, P J Vanherle, S J Timmer, E D Esseling, J J Koopman, W J H Willems, P H G M Schoonderwoerd, G C De Groote, D Poll-The, B T de Coo, I F M Smeets, H J M Producer: 20121108 In: Biochimica et biophysica acta vol. 1817 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. [electronic resource] by van den Bosch, B J C Gerards, M Sluiter, W Stegmann, A P A Jongen, E L C Hellebrekers, D M E I Oegema, R Lambrichs, E H Prokisch, H Danhauser, K Schoonderwoerd, K de Coo, I F M Smeets, H J M Producer: 20120410 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. [electronic resource] by Baertling, F Sánchez-Caballero, L van den Brand, M A M Fung, C-W Chan, S H-S Wong, V C-N Hellebrekers, D M E de Coo, I F M Smeitink, J A M Rodenburg, R J T Nijtmans, L G J Producer: 20180806 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Physical activity is the key determinant of skeletal muscle mitochondrial function in type 2 diabetes. [electronic resource] by van Tienen, F H J Praet, S F E de Feyter, H M van den Broek, N M Lindsey, P J Schoonderwoerd, K G C de Coo, I F M Nicolay, K Prompers, J J Smeets, H J M van Loon, L J C Producer: 20121126 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome. [electronic resource] by Gerards, M Sluiter, W van den Bosch, B J C de Wit, L E A Calis, C M H Frentzen, M Akbari, H Schoonderwoerd, K Scholte, H R Jongbloed, R J Hendrickx, A T M de Coo, I F M Smeets, H J M Producer: 20101124 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutation. [electronic resource] by van Eijsden, R G E Eijssen, L M T Lindsey, P J van den Burg, C M M de Wit, L E A Rubio-Gozalbo, M E de Die, C E M Ayoubi, T Sluiter, W de Coo, I F M Smeets, H J M Producer: 20080919 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Early-onset LBSL: how severe does it get? [electronic resource] by Steenweg, M E van Berge, L van Berkel, C G M de Coo, I F M Temple, I K Brockmann, K Mendonça, C I P Vojta, S Kolk, A Peck, D Carr, L Uziel, G Feigenbaum, A Blaser, S Scheper, G C van der Knaap, M S Producer: 20130502 In: Neuropediatrics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. [electronic resource] by van Gelder, C M van Capelle, C I Ebbink, B J Moor-van Nugteren, I van den Hout, J M P Hakkesteegt, M M van Doorn, P A de Coo, I F M Reuser, A J J de Gier, H H W van der Ploeg, A T Producer: 20120809 In: Journal of inherited metabolic disease vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. [electronic resource] by Oegema, R de Klein, A Verkerk, A J Schot, R Dumee, B Douben, H Eussen, B Dubbel, L Poddighe, P J van der Laar, I Dobyns, W B van der Spek, P J Lequin, M H de Coo, I F M de Wit, M-C Y Wessels, M W Mancini, G M S Publication details: Molecular syndromology Sep 2010 In: Molecular syndromology vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. [electronic resource] by van Hagen, J M van der Geest, J N van der Giessen, R S Lagers-van Haselen, G C Eussen, H J F M M Gille, J J P Govaerts, L C P Wouters, C H de Coo, I F M Hoogenraad, C C Koekkoek, S K E Frens, M A van Camp, N van der Linden, A Jansweijer, M C E Thorgeirsson, S S De Zeeuw, C I Producer: 20070508 In: Neurobiology of disease vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands. [electronic resource] by van den Bergen, J C Ginjaar, H B van Essen, A J Pangalila, R de Groot, I J M Wijkstra, P J Zijnen, M P Cobben, N A M Kampelmacher, M J Wokke, B H A de Coo, I F M Fock, J M Horemans, A M C van Tol, M Vroom, E Rijlaarsdam, M E B Straathof, C S M Niks, E H Verschuuren, J J G M Publication details: Journal of neuromuscular diseases In: Journal of neuromuscular diseases vol. 1 Availability: No items available. Save to lists Add to cart (remove)
	35.	A clinical diagnostic algorithm for early onset cerebellar ataxia. [electronic resource] by Brandsma, R Verschuuren-Bemelmans, C C Amrom, D Barisic, N Baxter, P Bertini, E Blumkin, L Brankovic-Sreckovic, V Brouwer, O F Bürk, K Catsman-Berrevoets, C E Craiu, D de Coo, I F M Gburek, J Kennedy, C de Koning, T J Kremer, H P H Kumar, R Macaya, A Micalizzi, A Mirabelli-Badenier, M Nemeth, A Nuovo, S Poll-The, B Lerman-Sagie, T Steinlin, M Synofzik, M Tijssen, M A J Vasco, G Willemsen, M A A P Zanni, G Valente, E M Boltshauser, E Sival, D A Producer: 20200113 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)