المؤلفون: Giri, D, Bockenhauer, D, Deshpande, C, Achermann, JC, Taylor, NF, Rumsby, G, Morgan, H, Senniappan, S, Ajzensztejn, M

المصدر: Hormone Research in Paediatrics (2020) (In press).

مصطلحات موضوعية: HSD3B2 deficiency · Bartter syndrome · Maternal isodisomy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10100564/3/Achermann_giri%20et%20al%20revised.pdf; https://discovery.ucl.ac.uk/id/eprint/10100564/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10100564/3/Achermann_giri%20et%20al%20revised.pdf
https://discovery.ucl.ac.uk/id/eprint/10100564/

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

Relation: Radian, S., Diekmann, Y., Gabrovska, P., Holland, B., Bradley, L., Wallace, H., Stals, K., Bussell, A. -M., McGurren, K., Cuesta, M., Ryan, A. W., Herincs, M., Hernandez-Ramirez, L. C., Holland, A., Samuels, J., Aflorei, E. D., Barry, S., Denes, J., Pernicova, I. ,. Korbonits, M. (2017). Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. HUMAN MUTATION, 38 (1), pp.78-85. https://doi.org/10.1002/humu.23121.; http://hdl.handle.net/11343/260428

الاتاحة: http://hdl.handle.net/11343/260428

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

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

وصف الملف: 78 - 85

Relation: HUMAN MUTATION; http://qmro.qmul.ac.uk/xmlui/handle/123456789/17888

الاتاحة: http://qmro.qmul.ac.uk/xmlui/handle/123456789/17888
https://doi.org/10.1002/humu.23121

المؤلفون: Ajzensztejn, M.

المصدر: Archives of Disease in Childhood - Education and Practice ; volume 96, issue 2, page 67-72 ; ISSN 1743-0585 1743-0593

الاتاحة: http://dx.doi.org/10.1136/adc.2009.172320
https://syndication.highwire.org/content/doi/10.1136/adc.2009.172320

المؤلفون: Ajzensztejn, M. J, Sebire, N. J, Trompeter, R. S, Marks, S. D

المصدر: Archives of Disease in Childhood ; volume 92, issue 3, page 197-197 ; ISSN 0003-9888 1468-2044

الاتاحة: http://dx.doi.org/10.1136/adc.2006.107334
https://syndication.highwire.org/content/doi/10.1136/adc.2006.107334

المؤلفون: Nimri R, Atlas E, Ajzensztejn M, Miller S, Oron T, Phillip M

المصدر: Diabetes Technology & Therapeutics; 2012 Aug, Vol. 14 Issue 8, p728-735, 8p

المؤلفون: Ajzensztejn M

المصدر: Archives of Disease in Childhood -- Education & Practice Edition; Apr2011, Vol. 96 Issue 4, p67-72, 6p