Results of search for 'au:"Gabreĕls, F J"' › مکتبة رقمیه للعلوم الطبيه catalog

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	201.	Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency. [electronic resource] by Rubio-Gozalbo, M E Smeitink, J A Ruitenbeek, W Ter Laak, H Mullaart, R A Schuelke, M Mariman, E C Sengers, R C Gabreëls, F J Producer: 19990216 In: Neurology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	202.	Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. [electronic resource] by Verrips, A Steenbergen-Spanjers, G C Luyten, J A Wevers, R A Wokke, J H Gabreëls, F J Wolthers, B G van den Heuvel, L P Producer: 19970908 In: Human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	203.	L-dopa-responsive infantile hypokinetic rigid parkinsonism due to tyrosine hydroxylase deficiency. [electronic resource] by de Rijk-Van Andel, J F Gabreëls, F J Geurtz, B Steenbergen-Spanjers, G C van Den Heuvel, L P Smeitink, J A Wevers, R A Producer: 20010201 In: Neurology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	204.	Nijmegen breakage syndrome: a neuropathological study. [electronic resource] by Lammens, M Hiel, J A P Gabreëls, F J M van Engelen, B G M van den Heuvel, L P W J Weemaes, C M R Producer: 20031205 In: Neuropediatrics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	205.	Antihypertensive treatment during pregnancy and functional development at primary school age in a historical cohort study. [electronic resource] by Pasker-de Jong, P C M Zielhuis, G A van Gelder, M M H J Pellegrino, A Gabreëls, F J M Eskes, T K A B Producer: 20101102 In: BJOG : an international journal of obstetrics and gynaecology vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	206.	Peripheral nerve elongation by laser Doppler flowmetry controlled expansion: functional and neurophysiological aspects. [electronic resource] by van der Wey, L P Polder, T W Merks, M H Stegeman, D F Vingerhoets, D H Gabrëels-Festen, A A Spauwen, P H Gabrëels, F J Producer: 19941207 In: Journal of the neurological sciences vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	207.	Progressive infantile poliodystrophy (Alpers' disease) with a defect in citric acid cycle activity in liver and fibroblasts. [electronic resource] by Prick, M J Gabreëls, F J Renier, W O Trijbels, J M Willems, J L Janssen, A J Slooff, J L Geelen, J A de Jager, J P Producer: 19821216 In: Neuropediatrics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	208.	Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature. [electronic resource] by van Erven, P M Cillessen, J P Eekhoff, E M Gabreëls, F J Doesburg, W H Lemmens, W A Slooff, J L Renier, W O Ruitenbeek, W Producer: 19880212 In: Clinical neurology and neurosurgery vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	209.	Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. [electronic resource] by Willemsen, M A IJlst, L Steijlen, P M Rotteveel, J J de Jong, J G van Domburg, P H Mayatepek, E Gabreëls, F J Wanders, R J Producer: 20010726 In: Brain : a journal of neurology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	210.	Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver. [electronic resource] by Van Erven, P M Gabreëls, F J Ruitenbeek, W Den Hartog, M R Fischer, J C Renier, W O Trijbels, J M Slooff, J L Janssen, A J Producer: 19851118 In: Acta neurologica Scandinavica vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	211.	Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. [electronic resource] by Mariman, E C Gabreëls-Festen, A A van Beersum, S E Valentijn, L J Baas, F Bolhuis, P A Jongen, P J Ropers, H H Gabreëls, F J Producer: 19941110 In: Annals of neurology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	212.	Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patients. [electronic resource] by Prick, M J Gabreëls, F J Trijbels, J M Janssen, A J le Coultre, R van Dam, K Jaspar, H H Ebels, E J Op de Coul, A A Producer: 19830708 In: Clinical neurology and neurosurgery vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	213.	Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen. [electronic resource] by de Coo, I F Gabreëls, F J Renier, W O de Pont, J J van Haelst, U J Veerkamp, J H Trijbels, J M Jaspar, H H Renkawek, K Producer: 19910801 In: Clinical neuropathology vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	214.	Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. [electronic resource] by Mariman, E C Gabreëls-Festen, A A van Beersum, S E Jongen, P J van de Looij, E Baas, F Bolhuis, P A Ropers, H H Gabreëls, F J Producer: 19940329 In: Human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	215.	A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. [electronic resource] by Fischer, J C Ruitenbeek, W Gabreëls, F J Janssen, A J Renier, W O Sengers, R C Stadhouders, A M ter Laak, H J Trijbels, J M Veerkamp, J H Producer: 19860522 In: European journal of pediatrics vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	216.	Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. [electronic resource] by Verrips, A Wevers, R A Van Engelen, B G Keyser, A Wolthers, B G Barkhof, F Stalenhoef, A De Graaf, R Janssen-Zijlstra, F Van Spreeken, A Gabreëls, F J Producer: 19990225 In: Metabolism: clinical and experimental vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	217.	De-novo mutation in hereditary motor and sensory neuropathy type I. [electronic resource] by Hoogendijk, J E Hensels, G W Gabreëls-Festen, A A Gabreëls, F J Janssen, E A de Jonghe, P Martin, J J van Broeckhoven, C Valentijn, L J Baas, F Producer: 19920528 In: Lancet (London, England) vol. 339 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	218.	Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1. [electronic resource] by Hiel, J A Weemaes, C M van Engelen, B G Smeets, D Ligtenberg, M van Der Burgt, I van Den Heuvel, L P Cerosaletti, K M Gabreëls, F J Concannon, P Producer: 20011011 In: Journal of medical genetics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	219.	A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). [electronic resource] by Wevers, R A de Rijk-van Andel, J F Bräutigam, C Geurtz, B van den Heuvel, L P Steenbergen-Spanjers, G C Smeitink, J A Hoffmann, G F Gabreëls, F J Producer: 19990923 In: Journal of inherited metabolic disease vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	220.	Familial adult-onset muscular dystrophy with leukoencephalopathy. [electronic resource] by van Engelen, B G Leyten, Q H Bernsen, P L Gabreëls, F J Barkhof, F Joosten, E M Hamel, B C ter Laak, H J Ruijs, M B Cruysberg, J R Producer: 19921231 In: Annals of neurology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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