Search Results - Pilz, D T

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

Get full text Get full text

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

Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text

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

Get full text Get full text

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

Get full text

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

Get full text Get full text

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

Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification by 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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text