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	21.	Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter. [electronic resource] by Archer, H L Gupta, S Enoch, S Thompson, P Rowbottom, A Chua, I Warren, S Johnson, D Ledbetter, D H Lese-Martin, C Williams, P Pilz, D T Producer: 20050810 In: American journal of medical genetics. Part A vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Identification of five novel SPRED1 germline mutations in Legius syndrome. [electronic resource] by Laycock-van Spyk, S Jim, H P Thomas, L Spurlock, G Fares, L Palmer-Smith, S Kini, U Saggar, A Patton, M Mautner, V Pilz, D T Upadhyaya, M Producer: 20110928 In: Clinical genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with [electronic resource] by Balasubramanian, M Willoughby, J Fry, A E Weber, A Firth, H V Deshpande, C Berg, J N Chandler, K Metcalfe, K A Lam, W Pilz, D T Tomkins, S Producer: 20180405 In: Journal of medical genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. [electronic resource] by Pilz, D T Matsumoto, N Minnerath, S Mills, P Gleeson, J G Allen, K M Walsh, C A Barkovich, A J Dobyns, W B Ledbetter, D H Ross, M E Producer: 19990121 In: Human molecular genetics vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment. [electronic resource] by Barnicoat, A J Bonneau, J L Boyd, E Docherty, Z Fennell, S J Huret, J L King, M Maltby, E L McManus, S Pilz, D T Shafei-Benaissa, E Super, M Tolmie, J Producer: 19961024 In: Clinical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. [electronic resource] by Matsumoto, N Leventer, R J Kuc, J A Mewborn, S K Dudlicek, L L Ramocki, M B Pilz, D T Mills, P L Das, S Ross, M E Ledbetter, D H Dobyns, W B Producer: 20010405 In: European journal of human genetics : EJHG vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. [electronic resource] by Cardoso, C Leventer, R J Matsumoto, N Kuc, J A Ramocki, M B Mewborn, S K Dudlicek, L L May, L F Mills, P L Das, S Pilz, D T Dobyns, W B Ledbetter, D H Producer: 20010222 In: Human molecular genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. [electronic resource] by Briggs, T A Wolf, N I D'Arrigo, S Ebinger, F Harting, I Dobyns, W B Livingston, J H Rice, G I Crooks, D Rowland-Hill, C A Squier, W Stoodley, N Pilz, D T Crow, Y J Producer: 20090121 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. [electronic resource] by Piano Mortari, E Folgiero, V Marcellini, V Romania, P Bellacchio, E D'Alicandro, V Bocci, C Carrozzo, R Martinelli, D Petrini, S Axiotis, E Farroni, C Locatelli, F Schara, U Pilz, D T Jungbluth, H Dionisi-Vici, C Carsetti, R Producer: 20190226 In: Autophagy vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. [electronic resource] by Archer, H L Whatley, S D Evans, J C Ravine, D Huppke, P Kerr, A Bunyan, D Kerr, B Sweeney, E Davies, S J Reardon, W Horn, J MacDermot, K D Smith, R A Magee, A Donaldson, A Crow, Y Hermon, G Miedzybrodzka, Z Cooper, D N Lazarou, L Butler, R Sampson, J Pilz, D T Laccone, F Clarke, A J Producer: 20060717 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)