Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta
Balasubramanian, M, Hurst, J, Brown, S, Bishop, N.J, Arundel, P, DeVile, C, Pollitt, R.C, Crooks, L, Longman, D, Caceres, J.F, Shackley, F, Connolly, S, Payne, J.H, Offiah, A.C, Hughes, D, Parker, M.J, Hide, W, Skerry, T
Published in Bone (New York, N.Y.) (01.01.2017)
Published in Bone (New York, N.Y.) (01.01.2017)
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Journal Article
European best practice guidelines for cystic fibrosis neonatal screening
Castellani, Carlo, Southern, Kevin W, Brownlee, Keith, Dankert Roelse, Jeannette, Duff, Alistair, Farrell, Michael, Mehta, Anil, Munck, Anne, Pollitt, Rodney, Sermet-Gaudelus, Isabelle, Wilcken, Bridget, Ballmann, Manfred, Corbetta, Carlo, de Monestrol, Isabelle, Farrell, Philip, Feilcke, Maria, Férec, Claude, Gartner, Silvia, Gaskin, Kevin, Hammermann, Jutta, Kashirskaya, Nataliya, Loeber, Gerard, Macek, Milan, Mehta, Gita, Reiman, Andreas, Rizzotti, Paolo, Sammon, Alec, Sands, Dorota, Smyth, Alan, Sommerburg, Olaf, Torresani, Toni, Travert, Georges, Vernooij, Annette, Elborn, Stuart
Published in Journal of cystic fibrosis (01.05.2009)
Published in Journal of cystic fibrosis (01.05.2009)
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Journal Article
Fever and Rash One Month After Orthotopic Liver Transplantation
Hobeika, M., Pollitt, R., Freise, C., Shinkai, K.
Published in American journal of transplantation (01.01.2013)
Published in American journal of transplantation (01.01.2013)
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Journal Article
A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease
Jones, K A, Choong, A M T L, Canham, N, Renton, S, Pollitt, R, Nesbitt, M, Kopcke, D, Islam, L, Buckley, J, Ghali, N, Vandersteen, A
Published in Annals of the Royal College of Surgeons of England (01.07.2015)
Published in Annals of the Royal College of Surgeons of England (01.07.2015)
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Journal Article
Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome
Foulkes, A. C., Pollitt, R., Sobey, G., Pope, F. M., Taylor, A. E. M.
Published in Clinical and experimental dermatology (01.07.2013)
Published in Clinical and experimental dermatology (01.07.2013)
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Journal Article
Femoral Artery Dissection in Vascular Type Ehlers–Danlos Syndrome; Leave Well Alone?
Singh, M, Puppala, S, Pollitt, R.C, Sobey, G.J, Scott, D.J.A
Published in European journal of vascular and endovascular surgery (01.03.2012)
Published in European journal of vascular and endovascular surgery (01.03.2012)
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Journal Article
Qualitative urinary organic acid analysis: Methodological approaches and performance
Peters, V, Garbade, S. F, Langhans, C. D, Hoffmann, G. F, Pollitt, R. J, Downing, M, Bonham, J. R
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency
Olpin, S. E., Afifi, A., Clark, S., Manning, N. J., Bonham, J. R., Dalton, A., Leonard, J. V., Land, J. M., Andresen, B. S., Morris, A. A., Muntoni, F., Turnbull, D., Pourfarzam, M., Rahman, S., Pollitt, R. J.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Journal Article
2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man
Olpin, S. E., Pollitt, R. J., McMenamin, J., Manning, N. J., Besley, G., Ruiter, J. P. N., Wanders, R. J. A.
Published in Journal of inherited metabolic disease (01.11.2002)
Published in Journal of inherited metabolic disease (01.11.2002)
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Journal Article
Focus on neonatal screening
Hoffmann, G., Pollitt, R., Torresani, T., Yamaguchi, S.
Published in Journal of inherited metabolic disease (01.08.2007)
Published in Journal of inherited metabolic disease (01.08.2007)
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Journal Article