학술논문
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Document Type
Article
Author
Best, S.; Poulter, J.A.; Szymanska, K.; Toomes, C.; Inglehearn, C.; Johnson, C.A.; Lord, J.; Wheway, G.; Roche, M.; Watson, C.M.; Bevers, R.P.J.; Stuckey, A.; Brittain, H.; Ellingford, J.M.; Carmichael, J.; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Caulfield, M.J.; Chan, G.C.; Elgar, G.; Fowler, T.; Giess, A.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, J.F.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O’Donovan, P.; Odhams, C.A.; Patch, C.; Pereira, M.B.; Perez-Gil, D.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, 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.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, August 2022, 59(8):737-747)
Subject
Language
English
ISSN
14686244
00222593
00222593