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	1.	Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins. [electronic resource] by Nellist, M Goedbloed, M A Halley, D J J Producer: 20040323 In: Biochemical Society transactions vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene]. [electronic resource] by de Haan, G J Halley, D J J Deelen, W H Lindhout, D Producer: 20020826 In: Nederlands tijdschrift voor geneeskunde vol. 146 Availability: No items available. Save to lists Add to cart (remove)
	3.	[Tuberous sclerosis complex type 1 (TSC1): diagnostic significance of the cutaneous mini-lesions in a familial presentation]. [electronic resource] by Pascual-Castroviejo, I Pascual-Pascual, S I Velazquez, R van den Ouweland, A M W Halley, D J J Producer: 20070426 In: Neurologia (Barcelona, Spain) vol. 21 Availability: No items available. Save to lists Add to cart (remove)
	4.	FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics. [electronic resource] by de Vries, B B A Severijnen, L-A Jacobs, A Olmer, R Halley, D J J Oostra, B A Willemsen, R Producer: 20030805 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Movement disorder and neuronal migration disorder due to ARFGEF2 mutation. [electronic resource] by de Wit, M C Y de Coo, I F M Halley, D J J Lequin, M H Mancini, G M S Producer: 20091207 In: Neurogenetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. [electronic resource] by Ramsoekh, D Wagner, A van Leerdam, M E Dinjens, W N M Steyerberg, E W Halley, D J J Kuipers, E J Dooijes, D Producer: 20081224 In: Gut vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Studies on the pathogenesis of Costello syndrome. [electronic resource] by Mancini, G M S van Diggelen, O P Kleijer, W J Di Rocco, M Farina, V Yuksel-Apak, M Kayserili, H Halley, D J J Producer: 20030417 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. [electronic resource] by van Minkelen, R van Bever, Y Kromosoeto, J N R Withagen-Hermans, C J Nieuwlaat, A Halley, D J J van den Ouweland, A M W Producer: 20150512 In: Clinical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects. [electronic resource] by de Wit, M C Y Kros, J M Halley, D J J de Coo, I F M Verdijk, R Jacobs, B C Mancini, G M S Producer: 20090420 In: Journal of neurology, neurosurgery, and psychiatry vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process. [electronic resource] by Langereis, E J van den Berg, I E T Halley, D J J Poorthuis, B J H M Vaz, F M Wokke, J H J Linthorst, G E Producer: 20130225 In: JIMD reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. [electronic resource] by Dohle, G R Halley, D J J Van Hemel, J O van den Ouwel, A M W Pieters, M H E C Weber, R F A Govaerts, L C P Producer: 20020326 In: Human reproduction (Oxford, England) vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. [electronic resource] by Nellist, M Sancak, O Goedbloed, M A van Veghel-Plandsoen, M Maat-Kievit, A Lindhout, D Eussen, B H de Klein, A Halley, D J J van den Ouweland, A M W Producer: 20060124 In: Genetic testing vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion. [electronic resource] by Pinto, D de Haan, G-J Carton, D Bader, A Witte, J Peters, E van Erp, M G Vandereyken, W Boezeman, E H J F Boon, P Halley, D J J Koeleman, B P C Lindhout, D Producer: 20051011 In: Human genetics vol. 117 Availability: No items available. Save to lists Add to cart (remove)
	14.	Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. [electronic resource] by Kroos, M A Pomponio, R J Hagemans, M L Keulemans, J L M Phipps, M DeRiso, M Palmer, R E Ausems, M G E M Van der Beek, N A M E Van Diggelen, O P Halley, D J J Van der Ploeg, A T Reuser, A J J Producer: 20070130 In: Neurology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification. [electronic resource] by Hes, F J van der Luijt, R B Janssen, A L W Zewald, R A de Jong, G J Lenders, J W Links, T P Luyten, G P M Sijmons, R H Eussen, H J Halley, D J J Lips, C J M Pearson, P L van den Ouweland, A M W Majoor-Krakauer, D F Producer: 20071105 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)