학술논문
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'학술논문'
에서 검색결과 243건 | 목록
1~20
Academic Journal
Kriukelis, Rebecca; Gabbett, Michael T.; Beswick, Rachael; McInerney-Leo, Aideen M.; Driscoll, Carlie; Liddle, Karen
European Journal of Human Genetics. 33(2):208-219
Academic Journal
Ellie J Maas; Emily DeBortoli; Vaishnavi Nathan; Ned P Freeman; Adam Mothershaw; Darren J Smit; Brigid Betz-Stablein; Lauren G Aoude; Mitchell S Stark; Richard A Sturm; H Peter Soyer; Aideen M McInerney-Leo
Journal of Medical Genetics. 61:891-894
Academic Journal
Courtney K. Wallingford; Ellie J. Maas; Antonia Howard; Emily DeBortoli; Deboshmita Bhanja; Katie Lee; Adam Mothershaw; Kasturee Jagirdar; Rod Willett; Brigid Betz‐Stablein; Richard A. Sturm; H. Peter Soyer; Aideen M. McInerney‐Leo
Pigment Cell & Melanoma Research. 37:68-73
Academic Journal
Courtney K Wallingford; Anastassia Demeshko; Asha Krishnankutty Krishnakripa; Darren J Smit; David L Duffy; Brigid Betz-Stablein; Annette Pflugfelder; Kasturee Jagirdar; Elizabeth Holland; Graham J Mann; Clare A Primiero; Tatiane Yanes; Josep Malvehy; Cèlia Badenas; Cristina Carrera; Paula Aguilera; Catherine M Olsen; Sarah V Ward; Nikolas K Haass; Richard A Sturm; Susana Puig; David C Whiteman; Matthew H Law; Anne E Cust; Miriam Potrony; H Peter Soyer; Aideen M McInerney-Leo
Br J Dermatol
Academic Journal
Courtney K, Wallingford; Hannah, Kovilpillai; Chris, Jacobs; Erin, Turbitt; Clare A, Primiero; Mary-Anne, Young; Deanna G, Brockman; H Peter, Soyer; Aideen M, McInerney-Leo; Tatiane, Yanes
Genetics in Medicine. 25:1-11
Academic Journal
Trends in Genetics. 38:1204-1207
Academic Journal
Yanes, Tatiane ; Wallingford, Courtney K. ; Young, Mary-Anne ; McInerney-Leo, Aideen M. ; Willis, Amanda M. ; McKnight, Lauren ; Terrill, Bronwyn ; McInerny, Simone ; Forrest, Laura E. ; Cicciarelli, Linda ; Williams, Rachel ; Keane, Holly ; James, Paul A.
In Genetics in Medicine August 2023 25(8)
Academic Journal
Ellie J. Maas; Courtney K. Wallingford; Jessica J. McGuire; Chantal Rutjes; Darren J. Smit; Brigid Betz‐Stablein; Richard A. Sturm; H. Peter Soyer; Aideen M. McInerney‐Leo
The Journal of Dermatology. 49:1183-1187
Academic Journal
Ellie J. Maas; Courtney K. Wallingford; Emily DeBortoli; Darren J Smit; Brigid Betz-Stablein; Lauren G Aoude; Mitchell S Stark; Richard A. Sturm; H. Peter Soyer; Aideen M McInerney-Leo
Journal of Medical Genetics. 60:835-837
Academic Journal
Aideen M McInerney-Leo; Hui Yi Chew; Po-Ling Inglis; Paul J Leo; Shannon R Joseph; Caroline L Cooper; Satomi Okano; Tim Hassall; Lisa K Anderson; Rayleen V Bowman; Michael Gattas; Jessica E Harris; Mhairi S Marshall; Janet G Shaw; Lawrie Wheeler; Ian A Yang; Matthew A Brown; Kwun M Fong; Fiona Simpson; Emma L Duncan
Hum Mol Genet
Academic Journal
Italian Journal of Dermatology and Venereology
Academic Journal
Ryan Pysar; Courtney K. Wallingford; Jackie Boyle; Scott B. Campbell; Lisa Eckstein; Rebekah McWhirter; Bronwyn Terrill; Chris Jacobs; Aideen M. McInerney-Leo
European Journal of Human Genetics. 29:1811-1818
Academic Journal
Atkinson, Caroline; McInerney-Leo, Aideen M.; Proctor, Martina; Lanagan, Catherine; Stevenson, Alexander J.; Dehkhoda, Farhad; Caole, Mary; Maas, Ellie; Ainger, Stephen; Pritchard, Antonia L.; Johansson, Peter A.; Leo, Paul; Hayward, Nicholas K.; Sturm, Richard A.; Duncan, Emma L.; Gabrielli, Brian
International Journal of Molecular Sciences. January, 2024, Vol. 25 Issue 3
Academic Journal
Ella M M A Martin; Annabelle Enriquez; Duncan B Sparrow; David T Humphreys; Aideen M McInerney-Leo; Paul J Leo; Emma L Duncan; Kavitha R Iyer; Joelene A Greasby; Eddie Ip; Eleni Giannoulatou; Delicia Sheng; Elizabeth Wohler; Clémantine Dimartino; Jeanne Amiel; Yline Capri; Daphné Lehalle; Adi Mory; Yael Wilnai; Yael Lebenthal; Ali G Gharavi; Grażyna G Krzemień; Monika Miklaszewska; Robert D Steiner; Cathy Raggio; Robert Blank; Hagit Baris Feldman; Hila Milo Rasouly; Nara L M Sobreira; Rebekah Jobling; Christopher T Gordon; Philip F Giampietro; Sally L Dunwoodie; Gavin Chapman
Human Molecular Genetics. 29:3662-3678
Academic Journal
Avinaash Maharaj; Federica Buonocore; Eirini Meimaridou; Gerard Ruiz-Babot; Leonardo Guasti; Hwei-Ming Peng; Cameron P Capper; Neikelyn Burgos-Tirado; Rathi Prasad; Claire R Hughes; Ashwini Maudhoo; Elizabeth Crowne; Timothy D Cheetham; Caroline E Brain; Jenifer P Suntharalingham; Niccolò Striglioni; Bilgin Yuksel; Fatih Gurbuz; Sangay Gupta; Robert Lindsay; Robert Couch; Helen A Spoudeas; Tulay Guran; Stephanie Johnson; Dallas J Fowler; Louise S Conwell; Aideen M McInerney-Leo; Delphine Drui; Bertrand Cariou; Juan P Lopez-Siguero; Mark Harris; Emma L Duncan; Peter C Hindmarsh; Richard J Auchus; Malcolm D Donaldson; John C Achermann; Louise A Metherell
J Endocr Soc
Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, HM , Capper, C P, Burgos-Tirado, N, Prasad, R, Hughes, C R, Maudhoo, A, Crowne, E, Cheetham, T D, Brain, C E, Suntharalingham, J P, Striglioni, N, Yuksel, B, Gurbuz, F, Gupta, S, Lindsay, R, Couch, R, Spoudeas, H A, Guran, T, Johnson, S, Fowler, D J, Conwell, L S, McInerney -Leo , A M , Drui, D, Cariou, B, Lopez-Siguero, J P, Harris, M , Duncan, E L, Hindmarsh, P C, Auchus, R J, Donaldson, M D, Achermann, J C & Metherell, L A 2019, ' Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing ', Journal of the Endocrine Society, vol. 3, no. 1, pp. 201-221 . https://doi.org/10.1210/js.2018-00130
Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, HM , Capper, C P, Burgos-Tirado, N, Prasad, R, Hughes, C R, Maudhoo, A, Crowne, E, Cheetham, T D, Brain, C E, Suntharalingham, J P, Striglioni, N, Yuksel, B, Gurbuz, F, Gupta, S, Lindsay, R, Couch, R, Spoudeas, H A, Guran, T, Johnson, S, Fowler, D J, Conwell, L S, McInerney -Leo , A M , Drui, D, Cariou, B, Lopez-Siguero, J P, Harris, M , Duncan, E L, Hindmarsh, P C, Auchus, R J, Donaldson, M D, Achermann, J C & Metherell, L A 2019, 'Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing', Journal of the Endocrine Society, vol. 3, no. 1, pp. 201-221. https://doi.org/10.1210/js.2018-00130
Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, H
Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, H
Academic Journal
Dermatology. 237:806-815
Academic Journal
Gregson, Celia L.; Bergen, Dylan J.M.; Leo, Paul; Sessions, Richard B.; Wheeler, Lawrie; Hartley, April; Youlten, Scott; Croucher, Peter I.; McInerney-Leo, Aideen M.; Fraser, William; Tang, Jonathan C.Y.; Anderson, Lisa; Marshall, Mhairi; Sergot, Leon; Paternoster, Lavinia; Davey Smith, George; Brown, Matthew A.; Hammond, Chrissy; Kemp, John P.; Tobias, Jon H.; Duncan, Emma L.; other, and
J Bone Miner Res
Brown,M A, Hammond, C, Kemp, J P, Duncan, E L 2020, 'A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signalling pathway as a potential anabolic target for osteoporosis', Journal of Bone and Mineral Research, vol. 35, no. 1, pp. 92-105. https://doi.org/10.1002/jbmr.3875
Gregson, C L, Bergen, D JM , Leo , P, Sessions, R B, Wheeler, L, Hartley, A, Youlten, S, Croucher, P I, McInerney -Leo , A M , Fraser, W, Tang, J C Y, Anderson, L, Marshall, M , Sergot, L, Paternoster, L, Davey Smith, G, Brown, M A, Hammond, C, Kemp, J P & Tobias, J H & Duncan, E L 2020, ' A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis ', Journal of Bone and Mineral Research, vol. 35, no. 1, pp. 92-105 . https://doi.org/10.1002/jbmr.3875
Gregson, C L, Bergen, D JM , Leo , P, Sessions, R B, Wheeler, L, Hartley, A, Youlten, S, Croucher, P I, McInerney -Leo , A M , Fraser, W, Tang, J C Y, Anderson, L, Marshall, M , Sergot, L, Paternoster, L, Davey Smith, G, Brown, M A, Hammond, C, Kemp, J P & Tobias, J H & Duncan, E L 2020, 'A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD-Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis', Journal of Bone and Mineral Research, vol. 35, no. 1, pp. 92-105. https://doi.org/10.1002/jbmr.3875
Brown,
Gregson, C L, Bergen, D J
Gregson, C L, Bergen, D J
Academic Journal
Amanda J Seabrook; Jessica E Harris; Sofia B Velosa; Edward Kim; Aideen M McInerney-Leo; Trisha Dwight; Jason I Hockings; Nicholas G Hockings; Judy Kirk; Paul J Leo; Amanda J Love; Catherine Luxford; Mhairi Marshall; Ozgur Mete; David J Pennisi; Matthew A Brown; Anthony J Gill; Gregory I Hockings; Roderick J Clifton-Bligh; Emma L Duncan
The Journal of Clinical Endocrinology & Metabolism. 106:e1163-e1182
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[검색어] McInerney-Leo, Aideen M
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