المؤلفون: Radian, S, Diekmann, Y, Gabrovska, P, Holland, B, Bradley, L, Wallace, H, Stals, K, Bussell, AM, McGurren, K, Cuesta, M, Ryan, AW, Herincs, M, Hernández-Ramírez, LC, Holland, A, Samuels, J, Aflorei, ED, Barry, S, Dénes, J, Pernicova, I, Stiles, CE, Trivellin, G, McCloskey, R, Azjensztejn, M, Abid, N, Akker, SA, Mercado, M, Cohen, M, Thakker, RV, Baldeweg, S, Barkan, A, Musat, M, Levy, M, Orme, S, Unterländer, M, Burger, J, Kumar, AV, Ellard, S, McPartlin, J, McManus, R, Linden, GJ, Atkinson, B, Balding, D, Agha, A, Thompson, CJ, Hunter, SJ, Thomas, MG, Morrison, PJ, Korbonits, M

Relation: https://ora.ox.ac.uk/objects/uuid:1f13d64e-181e-46e2-8379-7a2302d18583; https://doi.org/10.1002/humu.23121

الاتاحة: https://doi.org/10.1002/humu.23121
https://ora.ox.ac.uk/objects/uuid:1f13d64e-181e-46e2-8379-7a2302d18583

المؤلفون: Cabezas, OR, Flanagan, S, Stanescu, H, Garcia-Martinez, E, Caswell, R, Lango-Allen, H, Anton-Gamero, M, Argente, J, Bussell, AM, Brandli, A, Cheshire, C, Crowne, E, Dumitriu, S, Drynda, R, Hamilton-Shield, J, Hayes, W, Hofherr, A, Iancu, D, Issler, N, Jefferies, C, Jones, P, Johnson, M, Kesselheim, A, Klootwijk, E, Koettgen, M, Lewis, W, Martos, JM, Mozere, M, Norman, J, Patel, V, Parrish, A, Perez-Cerda, C, Pozo, J, Rahman, SA, Sebire, N, Tekman, M, Turnpenny, P, van't Hoff, W, Viering, D, Weedon, M, Wilson, P, Guay-Woodford, L, Kleta, R, Hussain, K, Ellard, S, Bockenhauer, D

المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2529-2539. (2017)

مصطلحات موضوعية: polycystic kidney disease, hyperinsulinemic hypoglycemia, glycosylation, promoter, PMM2, ZNF143

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1542470/36/Bockenhauer_HIPKD%2520JASN%2520rev2%252020170207clean.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/9/HIPKD-Figure%201-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/15/HIPKD-Figure%202-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/20/HIPKD-Figure%203-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/25/HIPKD-Figure%204-20160613.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/30/HIPKD%20Table1%20rev20170202.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/3/Supplementary%20Appendix%20JASNrev%2020170202.pdf; https://discovery.ucl.ac.uk/id/eprint/1542470/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1542470/36/Bockenhauer_HIPKD%2520JASN%2520rev2%252020170207clean.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/9/HIPKD-Figure%201-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/15/HIPKD-Figure%202-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/20/HIPKD-Figure%203-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/25/HIPKD-Figure%204-20160613.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/30/HIPKD%20Table1%20rev20170202.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/3/Supplementary%20Appendix%20JASNrev%2020170202.pdf
https://discovery.ucl.ac.uk/id/eprint/1542470/

المؤلفون: Radian, S, Diekmann, Y, Gabrovska, P, Holland, B, Bradley, L, Wallace, H, Stals, K, Bussell, AM, McGurren, K, Cuesta, M, Ryan, AW, Herincs, M, Hernández-Ramírez, LC, Holland, A, Samuels, J, Aflorei, ED, Barry, S, Dénes, J, Pernicova, I, Stiles, CE, Trivellin, G, McCloskey, R, Azjensztejn, M, Abid, N, Akker, SA, Mercado, M, Cohen, M, Thakker, RV, Baldeweg, S, Barkan, A, Musat, M, Levy, M, Orme, S, Unterländer, M, Burger, J, Kumar, AV, Ellard, S, McPartlin, J, McManus, R, Linden, GJ, Atkinson, B, Balding, D, Agha, A, Thompson, CJ, Hunter, SJ, Thomas, MG, Morrison, PJ, Korbonits, M

المصدر: Human Mutation , 38 (1) pp. 78-85. (2017)

مصطلحات موضوعية: AIP, acromegaly and gigantism, evolutionary genetics, founder mutation, population screening

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1516134/1/thomas_vor_Radian_et_al-2016-Human_Mutation.pdf; https://discovery.ucl.ac.uk/id/eprint/1516134/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1516134/1/thomas_vor_Radian_et_al-2016-Human_Mutation.pdf
https://discovery.ucl.ac.uk/id/eprint/1516134/