Mild clinical presentation of a patient with a mutation in the NSDHL gene
Ormerod, E., Bownass, L., Smithson, S., Zhang, Y., Dunnill, M. G. S.
Published in Clinical and experimental dermatology (01.06.2019)
Published in Clinical and experimental dermatology (01.06.2019)
Get full text
Journal Article
A novel likely pathogenic CLCN5 variant in Dent’s disease
Hayward, S, Norton, J, Bownass, L, Platt, C, Ambrose, J. C, Arumugam, P, Bevers, R, Bleda, M, Boardman-Pretty, F, Boustred, C. R, Brittain, H, Brown, M. A, Caulfield, M. J, Chan, G. C, Giess, A, Griffin, J. N, Hamblin, A, Henderson, S, Hubbard, T. J. P, Jackson, R, Jones, L. J, Kasperaviciute, D, Kayikci, M, Kousathanas, A, Lahnstein, L, Lakey, A, Leigh, S. E. A, Leong, I. U. S, Lopez, F. J, Maleady-Crowe, F, McEntagart, M, Minneci, F, Mitchell, J, Moutsianas, L, Mueller, M, Murugaesu, N, Need, A. C, O'Donovan, P, Odhams, C. A, Patch, C, Perez-Gil, D, Pereira, M. B, Pullinger, J, Rahim, T, Rendon, A, Rogers, T, Savage, K, Sawant, K, Scott, R. H, Siddiq, A, Sieghart, A, Smith, S. C, Sosinsky, A, Stuckey, A, Tanguy, M, Taylor Tavares, A. L, Thomas, E. R. A, Thompson, S. R, Tucci, A, Welland, M. J, Williams, E, Witkowska, K, Wood, S. M, Zarowiecki, M
Published in BMC nephrology (28.08.2023)
Published in BMC nephrology (28.08.2023)
Get full text
Journal Article
An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders study
Bownass, L., Newbury-Ecob, R., Love, S., Urankar, K., Study, D., Vijayakumar, K., Majumdar, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article
P.294 - An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders study
Bownass, L., Newbury-Ecob, R., Love, S., Urankar, K., Study, D., Vijayakumar, K., Majumdar, A.
Published in Neuromuscular disorders : NMD (01.10.2017)
Published in Neuromuscular disorders : NMD (01.10.2017)
Get full text
Journal Article