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	1.	Syndromes with lissencephaly. [electronic resource] by Pilz, D T Quarrell, O W Producer: 19960925 In: Journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). [electronic resource] by Matsumoto, N Pilz, D T Ledbetter, D H Producer: 19990422 In: Genomics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Reply to Shaffer regarding reply to "Burning down DEFECT11". [electronic resource] by Biesecker, L G Pilz, D T Pelz, D Producer: 20011025 In: American journal of medical genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Bilateral spontaneously regressed retinoblastoma with preservation of vision. [electronic resource] by Roberts, B N Pilz, D T Walters, R F Producer: 19970821 In: Eye (London, England) vol. 11 ( Pt 1) Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy? [electronic resource] by Eccles, D M Barker, S Pilz, D T Kennedy, C Producer: 20030318 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)
	6.	A3243G mitochondrial mutation associated with polymicrogyria. [electronic resource] by Keng, W T Pilz, D T Minns, B FitzPatrick, D R Producer: 20031023 In: Developmental medicine and child neurology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Two brothers with trichiasis, entropion and corneal scarring, sensorineural hearing loss, progressive thinning of scalp hair, mild learning difficulties and distinct facial features. A new syndrome? [electronic resource] by Hill, C J Lane, C M Long, C Clarke, A Pilz, D T Producer: 20041110 In: Clinical dysmorphology vol. 13 Availability: No items available. Save to lists Add to cart (remove)
	8.	Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. [electronic resource] by Matsumoto, N Pilz, D T Fantes, J A Kittikamron, K Ledbetter, D H Producer: 19990105 In: Journal of medical genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. [electronic resource] by Leventer, R J Pilz, D T Matsumoto, N Ledbetter, D H Dobyns, W B Producer: 20000811 In: Molecular medicine today vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Baraitser-Winter cerebrofrontofacial syndrome. [electronic resource] by Yates, T M Turner, C L Firth, H V Berg, J Pilz, D T Producer: 20180316 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Detecting deletions in the critical region for lissencephaly on 17p13.3 using fluorescent in situ hybridisation and a PCR assay identifying a dinucleotide repeat polymorphism. [electronic resource] by Pilz, D T Dalton, A Long, A Jaspan, T Maltby, E L Quarrell, O W Producer: 19950918 In: Journal of medical genetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Anophthalmia-esophageal-genital syndrome: a further case to define the phenotype. [electronic resource] by Hill, Clare J Pilz, D T Harper, P S Castle, B Williams, T H C Producer: 20050418 In: American journal of medical genetics. Part A vol. 132A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis. [electronic resource] by Mei, D Lewis, R Parrini, E Lazarou, L P Marini, C Pilz, D T Guerrini, R Producer: 20080811 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)
	14.	Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. [electronic resource] by Yue, Y Stout, K Grossmann, B Zechner, U Brinckmann, A White, C Pilz, D T Haaf, T Producer: 20060811 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)
	15.	Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. [electronic resource] by Pilz, D T Macha, M E Precht, K S Smith, A C Dobyns, W B Ledbetter, D H Producer: 20010405 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. [electronic resource] by Pilz, D T Kuc, J Matsumoto, N Bodurtha, J Bernadi, B Tassinari, C A Dobyns, W B Ledbetter, D H Producer: 20000127 In: Human molecular genetics vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16. [electronic resource] by Chandler, K E Del Rio, A Rakshi, K Springell, K Williams, D K Stoodley, N Woods, C G Pilz, D T Producer: 20060125 In: Brain : a journal of neurology vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Sequence variation at the phenylalanine hydroxylase gene in the British Isles. [electronic resource] by Tyfield, L A Stephenson, A Cockburn, F Harvie, A Bidwell, J L Wood, N A Pilz, D T Harper, P Smith, I Producer: 19970213 In: American journal of human genetics vol. 60 Availability: No items available. Save to lists Add to cart (remove)
	19.	Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. [electronic resource] by Dobyns, W B Truwit, C L Ross, M E Matsumoto, N Pilz, D T Ledbetter, D H Gleeson, J G Walsh, C A Barkovich, A J Producer: 19990921 In: Neurology vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. [electronic resource] by Fogli, A Guerrini, R Moro, F Fernandez-Alvarez, E Livet, M O Renieri, A Cioni, M Pilz, D T Veggiotti, P Rossi, E Ballabio, A Carrozzo, R Producer: 19990329 In: Annals of neurology vol. 45 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 30 results.