Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Claire R Hughes"'
Autor:
David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. Downstream deletio
Externí odkaz:
https://doaj.org/article/3e92f1e1c41c4fc8bfbb3cd6724d9103
Autor:
Elim Man, Imran Mushtaq, Angela Barnicoat, Polly Carmichael, Claire R Hughes, Kate Davies, Helen Aitkenhead, Rakesh Amin, Charles R Buchanan, Abraham Cherian, Nikola J Costa, Sarah M Creighton, Patrick G Duffy, Emma Hewson, Peter C Hindmarsh, Louisa C Monzani, Catherine J Peters, Philip G Ransley, Naima Smeulders, Helen A Spoudeas, Dan Wood, Ieuan A Hughes, Harshini Katugampola, Caroline E Brain, Mehul T Dattani, John C Achermann
Context Differences of sex development (DSD) represent a wide range of conditions presenting at different ages to various health professionals. Establishing a diagnosis, supporting the family, and developing a management plan are important. Objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::537cfdfe3a9e1c4d17ffeb045ee5a01b
https://www.repository.cam.ac.uk/handle/1810/344797
https://www.repository.cam.ac.uk/handle/1810/344797
Publikováno v:
Brook's Clinical Pediatric Endocrinology. :335-407
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c45276e2300a36a01a4c26af0ed3546b
https://doi.org/10.1002/9781119152712.ch9
https://doi.org/10.1002/9781119152712.ch9
Autor:
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
Publikováno v:
Journal of the Endocrine Society
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=pmid________::11fc5fb460c9f1cf492f16e2cea65bb8
https://pubmed.ncbi.nlm.nih.gov/30620006
https://pubmed.ncbi.nlm.nih.gov/30620006
Autor:
KURTOĞLU, Selim, Metherell, Louise A, Claire R, Hughes, KENDİRCİ, Mustafa, Hatipoğlu, Nihal, Adrian JL, Clark, AKIN, Leyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______9447::d12d217a6c0235970f10ccff435e3a8b
https://avesis.erciyes.edu.tr/publication/details/a7cc48cc-49cb-4007-a020-6160b255e238/oai
https://avesis.erciyes.edu.tr/publication/details/a7cc48cc-49cb-4007-a020-6160b255e238/oai
Publikováno v:
Cushing's Disease ISBN: 9781461400103
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2f9a055c6c36d8f693c2ba067438b09
https://doi.org/10.1007/978-1-4614-0011-0_14
https://doi.org/10.1007/978-1-4614-0011-0_14