Resultats de la cerca - Pilz, D T

Syndromes with lissencephaly. per Pilz, D T, Quarrell, O W

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Familial gonadal tumours. per Tischkowitz, M, Pilz, D, Harper, P S

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Neuronal migration defect in a BRCA1 gene carrier: possible focal nullisomy? per Eccles, D, Barker, S, Pilz, D, Kennedy, C

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Mechanism of YadA-mediated serum resistance of Yersinia enterocolitica serotype O3. per Pilz, D, Vocke, T, Heesemann, J, Brade, V

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Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). per Pilz, D, Quarrell, O W, Jones, E W

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RT-PCR em pools de soros sangüíneos para o diagnóstico da infecção aguda e de animais persistentemente infectados pelo vírus da diarréia viral bovina per Pilz, D., Alfieri, A.F., Lunardi, M., Alfieri, A.A.

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Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation. per Matsumoto, N, Pilz, D T, Fantes, J A, Kittikamron, K, Ledbetter, D H

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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. per Pilz, D T, Dalton, A, Long, A, Jaspan, T, Maltby, E L, Quarrell, O W

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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 per Yue, Y, Stout, K, Grossmann, B, Zechner, U, Brinckmann, A, White, C, Pilz, D T, Haaf, T

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Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase al... per Leeflang, E, Marsh, S, Parrini, E, Moro, F, Pilz, D, Dobyns, W, Guerrini, R, Wheless, J, Gleeson, J

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Sequence variation at the phenylalanine hydroxylase gene in the British Isles. per Tyfield, L A, Stephenson, A, Cockburn, F, Harvie, A, Bidwell, J L, Wood, N A, Pilz, D T, Harper, P, Smith, I

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Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification per Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T, FitzPatrick, D, Gillerot, Y, Hughes, H, Pilz, D, Raymond, F, Temple, I, Irrthum, A, Schouten, J, Rahman, N

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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity per 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.

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients per 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

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