检索结果 - Pilz, D T

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

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

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

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Mechanism of YadA-mediated serum resistance of Yersinia enterocolitica serotype O3. 由 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). 由 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 由 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. 由 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. 由 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 由 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... 由 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. 由 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 由 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 由 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 由 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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