المؤلفون: del Valle, Ignacio, Le Quesne, Polona, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise, A, Ishida, Miho, Suntharalingham, Jenifer, P, Gagunashvili, Andrey, Ogunbiyi, Olumide, K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline, E, Dattani, Mehul, T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos, F, Conway, Gerard, S, Achermann, John, C

المساهمون: Université Paris Cité (UPCité)

المصدر: ISSN: 2379-3708 ; JCI Insight ; https://hal.science/hal-04506407Test ; JCI Insight, 2022.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-04506407; https://hal.science/hal-04506407Test; https://hal.science/hal-04506407/documentTest; https://hal.science/hal-04506407/file/jciinsight-7-154671%20%281%29.pdfTest

الإتاحة: https://hal.science/hal-04506407Test
https://hal.science/hal-04506407/documentTest
https://hal.science/hal-04506407/file/jciinsight-7-154671%20%281%29.pdfTest

المؤلفون: Man, Elim, Mushtaq, Imran, Barnicoat, Angela, Carmichael, Polly, Hughes, Claire R, Davies, Kate, Aitkenhead, Helen, Amin, Rakesh, Buchanan, Charles R, Cherian, Abraham, Costa, Nikola J, Creighton, Sarah M, Duffy, Patrick G, Hewson, Emma, Hindmarsh, Peter C, Monzani, Louisa C, Peters, Catherine J, Ransley, Philip G, Smeulders, Naima, Spoudeas, Helen A, Wood, Dan, Hughes, Ieuan A, Katugampola, Harshini, Brain, Caroline E, Dattani, Mehul T, Achermann, John C

المصدر: essn: 2472-1972 ; nlmid: 101697997

مصطلحات موضوعية: DSD, ambiguous genitalia, androgen insensitivity, congenital adrenal hyperplasia, hypospadias, sex development, testicular dysgenesis

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/344797Test

الإتاحة: https://doi.org/10.17863/CAM.92220Test
https://www.repository.cam.ac.uk/handle/1810/344797Test

المؤلفون: McGlacken-Byrne, Sinead M, del Valle, Ignacio, Stabej, Polona Le Quesne, Bellutti, Laura, Garcia-Alonso, Luz, Ocaka, Louise A, Ishida, Miho, Suntharalingham, Jenifer P, Gagunashvili, Andrey, Ogunbiyi, Olumide K, Mistry, Talisa, Buonocore, Federica, Crespo, Berta, Moreno, Nadjeda, Niola, Paola, Brooks, Tony, Brain, Caroline E, Dattani, Mehul T, Kelberman, Daniel, Vento-Tormo, Roser, Lagos, Carlos F, Livera, Gabriel, Conway, Gerard S, Achermann, John C

المصدر: JCI Insight , 7 (5) , Article e154671. (2022)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Medicine, Research & Experimental, Research & Experimental Medicine, PROTEIN, EXPRESSION, TRANSCRIPTOME, MEIOSIS, DYNAMICS, PROGRAM, COMPLEX, CANCER, DOMAIN, CELLS

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10147264/1/Pathogenic%20variants%20in%20the%20human%20m6A%20reader%20YTHDC2%20are%20associated%20with%20primary%20ovarian%20insufficiency.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10147264Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10147264/1/Pathogenic%20variants%20in%20the%20human%20m6A%20reader%20YTHDC2%20are%20associated%20with%20primary%20ovarian%20insufficiency.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10147264Test/

المؤلفون: 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.

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: Addison disease, CYP11A1, Cytochrome p450scc, Side chain cleavage enzyme, Silent variant

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/231086/1/js.2018_00130.pdfTest; 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. (2019) Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3(1), pp. 201-221.; https://eprints.qut.edu.au/231086Test/; Institute of Health and Biomedical Innovation

الإتاحة: https://doi.org/10.1210/js.2018-00130Test
https://eprints.qut.edu.au/231086Test/

المؤلفون: Brain, Caroline E., Creighton, Sarah M., Mushtaq, Imran, Carmichael, Polly A., Barnicoat, Angela, Honour, John W., Larcher, Victor, Achermann, John C.

المساهمون: The Wellcome Trust, EuroDSD

المصدر: Best Practice & Research Clinical Endocrinology & Metabolism ; volume 24, issue 2, page 335-354 ; ISSN 1521-690X

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.beem.2010.01.006Test
https://api.elsevier.com/content/article/PII:S1521690X10000254?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1521690X10000254?httpAccept=text/plainTest

المؤلفون: Lin, Lin, Hindmarsh, Peter C., Metherell, Louise A., Alzyoud, Mahmoud, Al‐Ali, Maryam, Brain, Caroline E., Clark, Adrian J. L., Dattani, Mehul T., Achermann, John C.

المصدر: Clinical Endocrinology ; volume 66, issue 2, page 205-210 ; ISSN 0300-0664 1365-2265

الإتاحة: https://doi.org/10.1111/j.1365-2265.2006.02709.xTest

المؤلفون: 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.

المصدر: 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.2018-00130Test

مصطلحات موضوعية: CYP11A1, Side chain cleavage enzyme, Silent variant, dewey610, Addison disease, Cytochrome p450scc, dewey570

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::aad977e1cd6cce8fd909cfa021bf2e0dTest

المؤلفون: Forzano, Francesca, Foley, Patricia A., Keane, Morgan R., Brain, Caroline E., Smith, Gill D., Yates, Robert W., Ellershaw, Drew, Calder, Alistair D., Scott, Richard H.

المصدر: Clinical Dysmorphology ; volume 27, issue 1, page 6-8 ; ISSN 0962-8827

الإتاحة: https://doi.org/10.1097/mcd.0000000000000199Test
https://journals.lww.com/00019605-201801000-00003Test

المؤلفون: Güemes, Maria, Murray, Philip G, Brain, Caroline E, Spoudeas, Helen A, Peters, Catherine J, Hindmarsh, Peter C, Dattani, Mehul T

المصدر: European Journal of Pediatrics ; volume 175, issue 7, page 967-976 ; ISSN 0340-6199 1432-1076

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1007/s00431-016-2727-5Test

المؤلفون: Simpson, Michael A., Irving, Melita D., Asilmaz, Esra, Gray, Mary J., Dafou, Dimitra, Elmslie, Frances V., Mansour, Sahar, Holder, Sue E., Brain, Caroline E., Burton, Barbara K., Kim, Katherine H., Pauli, Richard M., Aftimos, Salim, Stewart, Helen, Kim, Chong Ae, Holder-Espinasse, Muriel, Robertson, Stephen P., Drake, William M., Trembath, Richard C.

المصدر: Simpson , M A , Irving , M D , Asilmaz , E , Gray , M J , Dafou , D , Elmslie , F V , Mansour , S , Holder , S E , Brain , C E , Burton , B K , Kim , K H , Pauli , R M , Aftimos , S , Stewart , H , Kim , C A , Holder-Espinasse , M , Robertson , S P , Drake , W M & Trembath , R C 2011 , ' Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder ....

الإتاحة: https://doi.org/10.1038/ng.779Test
https://kclpure.kcl.ac.uk/portal/en/publications/d7cf15ab-f009-4f15-acd8-95bb090fa389Test