Genetic and immune findings in complex febrile seizures and the epidemiology of Dravet syndrome: A nationwide cohort study
Symonds, J.D, Lang, B, Vincent, A, Brunklaus, A, Dorris, L, Ellis, R, Jollands, A, Joss, S, Kirkpatrick, M, McLellan, A, MacLeod, S, O'Regan, M, Pilz, D.T, Reavey, E, Stewart, K, Williams, N, Zuberi, S.M
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
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
Published in Neurology (22.07.1999)
Published in Neurology (22.07.1999)
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Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
Halliday, B J, Baynam, G, Ewans, L, Greenhalgh, L, Leventer, R J, Pilz, D T, Sachdev, R, Scheffer, I E, Markie, D M, McGillivray, G, Robertson, S P, Mandelstam, S
Published in American journal of neuroradiology : AJNR (01.11.2022)
Published in American journal of neuroradiology : AJNR (01.11.2022)
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Baraitser–Winter cerebrofrontofacial syndrome
Yates, T.M., Turner, C.L., Firth, H.V., Berg, J., Pilz, D.T.
Published in Clinical genetics (01.07.2017)
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The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity
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.
Published in Autophagy (02.01.2018)
Published in Autophagy (02.01.2018)
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Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype
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.
Published in American journal of medical genetics. Part A (15.12.2008)
Published in American journal of medical genetics. Part A (15.12.2008)
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Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter
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.
Published in American journal of medical genetics. Part A (01.07.2005)
Published in American journal of medical genetics. Part A (01.07.2005)
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Anophthalmia-esophageal-genital syndrome: A further case to define the phenotype
Hill, Clare J., Pilz, D.T., Harper, P.S., Castle, B., Williams, T.H.C.
Published in American journal of medical genetics. Part A (01.01.2005)
Published in American journal of medical genetics. Part A (01.01.2005)
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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?
Hill, C J, Lane, C M, Long, C, Clarke, A, Pilz, D T
Published in Clinical dysmorphology (01.04.2004)
Published in Clinical dysmorphology (01.04.2004)
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