Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders
Leo, V. C., Morgan, N. V., Bem, D., Jones, M. L., Lowe, G. C., Lordkipanidzé, M., Drake, S., Simpson, M. A., Gissen, P., Mumford, A., Watson, S. P., Daly, M. E.
Published in Journal of thrombosis and haemostasis (01.04.2015)
Published in Journal of thrombosis and haemostasis (01.04.2015)
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Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
Kurian, M A, Morgan, N V, MacPherson, L, Foster, K, Peake, D, Gupta, R, Philip, S G, Hendriksz, C, Morton, J E V, Kingston, H M, Rosser, E M, Wassmer, E, Gissen, P, Maher, E R
Published in Neurology (29.04.2008)
Published in Neurology (29.04.2008)
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MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation
Davison, James E, Davies, Nigel P, Wilson, Martin, Sun, Yu, Chakrapani, Anupam, McKiernan, Patrick J, Walter, John H, Gissen, P, Peet, Andrew C
Published in Orphanet journal of rare diseases (09.05.2011)
Published in Orphanet journal of rare diseases (09.05.2011)
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Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
Published in Journal of inherited metabolic disease (01.12.2018)
Published in Journal of inherited metabolic disease (01.12.2018)
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Journal Article
Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease
Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
Published in Journal of inherited metabolic disease (01.11.2018)
Published in Journal of inherited metabolic disease (01.11.2018)
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Rapid genetic diagnosis of heritable platelet function disorders with next‐generation sequencing: proof‐of‐principle with Hermansky–Pudlak syndrome
JONES, M. L., MURDEN, S. L., BEM, D., MUNDELL, S. J., GISSEN, P., DALY, M. E., WATSON, S. P., MUMFORD, A. D.
Published in Journal of thrombosis and haemostasis (01.02.2012)
Published in Journal of thrombosis and haemostasis (01.02.2012)
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Intracerebroventricular cerliponase alfa for children with CLN2 disease: Interim results from an ongoing phase 2 extension study
Schulz, A, Specchio, N, Gissen, P, de los Reyes, E, Cahan, H, Slasor, P, Ajayi, T, Jacoby, D
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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P1248 IDENTIFYING INCIDENCE OF INHERITED METABOLIC DISORDERS IN PATIENTS WITH INFANTILE LIVER DISEASE
Ruth, N.D, Gray, Z, McKay, K, Lloyd, C, Hartley, J, MacDonald, F, Hendriksz, C, Gissen, P, Kelly, D.A
Published in Journal of hepatology (01.04.2014)
Published in Journal of hepatology (01.04.2014)
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P10 Whole-exome-Sequencing-based discovery of novel syndromic form of neonatal cholestasis
Hartley, J L, Simpson, M, Tee, L, Brown, R M, Kirkham, S, Pasha, S, Trembath, R C, Gissen, P, Maher, E R, Kelly, D A, Morgan, N V
Published in Gut (01.09.2011)
Published in Gut (01.09.2011)
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A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Morgan, N V, Bacchelli, C, Gissen, P, Morton, J, Ferrero, G B, Silengo, M, Labrune, P, Casteels, I, Hall, C, Cox, P, Kelly, D A, Trembath, R C, Scambler, P J, Maher, E R, Goodman, F R, Johnson, C A
Published in Journal of medical genetics (01.06.2003)
Published in Journal of medical genetics (01.06.2003)
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Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene
Sanseverino, M. T. V., de Souza, C. F. M., Gissen, P., Sordi, A. O., Magalhães, J. A., Schüler‐Faccini, L.
Published in Ultrasound in obstetrics & gynecology (01.08.2006)
Published in Ultrasound in obstetrics & gynecology (01.08.2006)
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Ophthalmic follow‐up of patients with tyrosinaemia type I on NTBC
Gissen, P., Preece, M. A., Willshaw, H. A., McKiernan, P. J.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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G476(P) Aminoacylase 1 deficiency, a clinical prospect
KamarusJaman, N, Davison, J, Gissen, P, Krywawych, S
Published in Archives of disease in childhood (01.10.2020)
Published in Archives of disease in childhood (01.10.2020)
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