Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) von KURIAN, M. A, MORGAN, N. V, ROSSER, E. M, WASSMER, E, GISSEN, P, MAHER, E. R, MACPHERSON, L, FOSTER, K, PEAKE, D, GUPTA, R, PHILIP, S. G, HENDRIKSZ, C, MORTON, J. E. V, KINGSTON, H. M

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Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling von Hanson, D, Murray, P G, Coulson, T, Sud, A, Omokanye, A, Stratta, E, Sakhinia, F, Bonshek, C, Wilson, L C, Wakeling, E, Temtamy, S A, Aglan, M, Rosser, E M, Mansour, S, Carcavilla, A, Nampoothiri, S, Khan, W I, Banerjee, I, Chandler, K E, Black, G C M, Clayton, P E

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Cancer families: what risks are they given and do the risks affect management? von Rosser, E M, Hurst, J A, Chapman, C J

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Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease' von White, S M, Gubbay, S S, Norbury, C G, Rosser, E M, Huson, S M

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Robin M Winter—a colleagues’ perspective von Rosser, E M, Wilson, L M

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Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis von Bates, A W, Hall, C M, Morgan, H, Rosser, E M, Scheimberg, I

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Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14 von Van Esch, Hilde, Rosser, Elisabeth M, Janssens, Sandra, Van Ingelghem, Ingrid, Loeys, Bart, Menten, Bjorn

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Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome von Rosser, E M, Kaariainen, H, Hurst, J A, Baraitser, M, Hall, C M, Clayton, P, Leonard, J V

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Drugs for epilepsy have teratogenic risks von Rosser, Elisabeth M, Wilson, Louise C

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Serpentine fibula syndrome: expansion of the phenotype with three affected siblings von Rosser, E M, Mann, N P, Hall, C M, Winter, R M

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Keratoconus associated with a chromosome 7, 11 translocation von Morrison, Danny A, Rosser, Elisabeth M, Claoué, Charles

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Nance-Sweeney chondrodysplasia--a further case? von Rosser, E M, Hall, C M, Harper, J, Lacour, M, Baraitser, M

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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm von Onoufriadis, A, Shoemark, A, Munye, MM, James, CT, Schmidts, M, Patel, M, Rosser, EM, Bacchelli, C, Beales, PL, Scambler, PJ, Hart, SL, Danke-Roelse, JE, Sloper, JJ, Hull, S, Hogg, C, Emes, RD, Pals, G, Moore, AT, Chung, EMK, Mitchison, HM

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An Aldol-Based Approach to the Synthesis of the Antibiotic Anisomycin von Hulme, Alison N, Rosser, Edward M

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Geleophysic dysplasia: A report of three affected boys-prenatal ultrasound does not detect recurrence von Rosser, Elisabeth M., Wilkinson, Andrew R., Hurst, Jane A., McGaughran, Julie M., Donnai, Dian

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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation von Koolen, David A, Reardon, William, Rosser, Elisabeth M, Lacombe, Didier, Hurst, Jane A, Law, Caroline J, Bongers, Ernie M H F, van Ravenswaaij-Arts, Conny M, Leisink, Martijn A R, van Kessel, Ad Geurts, Veltman, Joris A, de Vries, Bert B A

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Family Practitioner Committees von Rosser, E. M.

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Synthetic anisomycin analogues activating the JNK/SAPK1 and p38/SAPK2 pathways von Rosser, Edward M, Morton, Simon, Ashton, Kate S, Cohen, Philip, Hulme, Alison N

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Campbell De Morgan and his spots von Rosser, E M

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Medulloblastoma as a first presentation of fanconi anemia von Tischkowitz, Marc D, Chisholm, Julia, Gaze, Mark, Michalski, Antony, Rosser, Elisabeth M

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