Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Maudhoo, Ashwini"'
Autor:
Maudhoo, Ashwini, Khalil, Asma
Publikováno v:
In Best Practice & Research Clinical Obstetrics & Gynaecology December 2022 85 Part A:17-25
Autor:
Brown, Elizabeth G., Watts, Isabella, Beales, Emily R., Maudhoo, Ashwini, Hayward, Judith, Sheridan, Eamonn, Rafi, Imran
Publikováno v:
In Genetics in Medicine August 2021 23(8):1438-1449
Autor:
Maharaj, Avinaash, Maudhoo, Ashwini, Chan, Li F., Novoselova, Tatiana, Prasad, Rathi, Metherell, Louise A., Guasti, Leonardo
Publikováno v:
In Journal of Steroid Biochemistry and Molecular Biology May 2019 189:73-80
Autor:
Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J., Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., Metherell, Louise A.
Publikováno v:
Maharaj, A, Buonocore, F, Meimaridou, E, Ruiz-Babot, G, Guasti, L, Peng, H M, 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
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aad977e1cd6cce8fd909cfa021bf2e0d
Autor:
Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P, Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R, Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D, Brain, Caroline E, Suntharalingham, Jenifer P, Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert
Publikováno v:
Journal of the Endocrine Society; Jan2019, Vol. 3 Issue 1, p201-221, 21p
Akademický článek
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Akademický článek
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Autor:
GÜRAN, TÜLAY
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that can present with nonspecific features and can be difficult to diagnose. We undertook next generation sequencing in a cohort of children and young adults with PAI of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3098::593e86612f2f54e3438c5802056dacec
https://hdl.handle.net/11424/243983
https://hdl.handle.net/11424/243983
Autor:
Maudhoo A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Maharaj A; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Buonocore F; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Martos-Moreno GA; Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain., Argente J; Department of Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain.; Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; CEI UAM + CSIC, IMDEA Food Institute, Madrid, Spain., Achermann JC; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK., Chan LF; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK., Metherell LA; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Publikováno v:
Endocrinology, diabetes & metabolism case reports [Endocrinol Diabetes Metab Case Rep] 2021 Sep 01; Vol. 2021. Date of Electronic Publication: 2021 Sep 01.