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1دورية أكاديميةPathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
المؤلفون: Sinéad M. McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A. Ocaka, Miho Ishida, Jenifer P. Suntharalingham, Andrey Gagunashvili, Olumide K. Ogunbiyi, Talisa Mistry, Federica Buonocore, GOSgene, Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks, Caroline E. Brain, Mehul T. Dattani, Daniel Kelberman, Roser Vento-Tormo, Carlos F. Lagos, Gabriel Livera, Gerard S. Conway, John C. Achermann
المصدر: JCI Insight, Vol 7, Iss 5 (2022)
مصطلحات موضوعية: Endocrinology, Genetics, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2379-3708Test
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المؤلفون: 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
المساهمون: Man, Elim [0000-0003-1549-2450], Mushtaq, Imran [0000-0002-7930-0342], Hughes, Claire R [0000-0003-1434-1773], Davies, Kate [0000-0003-4640-533X], Aitkenhead, Helen [0000-0002-1787-9467], Amin, Rakesh [0000-0003-0929-8467], Buchanan, Charles R [0000-0002-9885-3698], Hindmarsh, Peter C [0000-0003-2490-8518], Peters, Catherine J [0000-0003-1423-3529], Smeulders, Naima [0000-0002-2656-6593], Spoudeas, Helen A [0000-0002-0774-6601], Wood, Dan [0000-0002-5195-5515], Hughes, Ieuan A [0000-0002-8787-1575], Katugampola, Harshini [0000-0003-3426-2511], Brain, Caroline E [0000-0002-0630-6532], Dattani, Mehul T [0000-0002-0365-5809], Achermann, John C [0000-0001-8787-6272], Apollo - University of Cambridge Repository
مصطلحات موضوعية: androgen insensitivity, ambiguous genitalia, sex development, Endocrinology, Diabetes and Metabolism, DSD, congenital adrenal hyperplasia, hypospadias, testicular dysgenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::537cfdfe3a9e1c4d17ffeb045ee5a01bTest
https://www.repository.cam.ac.uk/handle/1810/344797Test -
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المؤلفون: 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
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: CYP11A1, silent variant, Addison disease, cytochrome p450scc, Adrenal, Research Articles, side chain cleavage enzyme
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::11fc5fb460c9f1cf492f16e2cea65bb8Test
https://pubmed.ncbi.nlm.nih.gov/30620006Test -
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المؤلفون: Robert W. Yates, Morgan R. Keane, Richard H Scott, Drew Ellershaw, Patricia A. Foley, Gill D. Smith, Alistair Calder, Caroline E. Brain, Francesca Forzano
المصدر: Clinical dysmorphology. 27(1)
مصطلحات موضوعية: 0301 basic medicine, Genetics, Heart Defects, Congenital, business.industry, General Medicine, 030105 genetics & heredity, Gene deletion, Heart Septal Defects, Atrial, Pathology and Forensic Medicine, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Medicine, Humans, Abnormalities, Multiple, Female, Upper Extremity Deformities, Congenital, Anatomy, business, Child, T-Box Domain Proteins, Genetics (clinical), Gene Deletion, Lower Extremity Deformities, Congenital
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40a69696685a1f59624b7138e5818c65Test
https://pubmed.ncbi.nlm.nih.gov/28961683Test -
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المؤلفون: John C. Hyde, David B. Grant, Jeremy Kirk, Caroline E. Brain, Dennis J. Carson
المصدر: The Journal of pediatrics. 134(6)
مصطلحات موضوعية: musculoskeletal diseases, Male, Pathology, medicine.medical_specialty, Pediatrics, Adolescent, Hydrocortisone, Puberty, Precocious, McCune–Albright syndrome, Cushing syndrome, medicine, Precocious puberty, Endocrine system, Humans, Child, Cushing Syndrome, Adrenal Hyperplasia, Congenital, business.industry, Fibrous dysplasia, Cafe-au-Lait Spots, Focal nodular hyperplasia, Infant, Newborn, Infant, Adrenalectomy, Fibrous Dysplasia of Bone, Syndrome, medicine.disease, Osteochondrodysplasia, Pediatrics, Perinatology and Child Health, Female, Nephrocalcinosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079f32ad7cfc3bce0df1f900a6cde990Test
https://pubmed.ncbi.nlm.nih.gov/10356155Test