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1دورية أكاديمية
المؤلفون: Denis Houzelstein, Caroline Eozenou, Carlos F. Lagos, Maëva Elzaiat, Joelle Bignon-Topalovic, Inma Gonzalez, Vincent Laville, Laurène Schlick, Somboon Wankanit, Prochi Madon, Jyotsna Kirtane, Arundhati Athalye, Federica Buonocore, Stéphanie Bigou, Gerard S. Conway, Delphine Bohl, John C. Achermann, Anu Bashamboo, Ken McElreavey
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديمية
المؤلفون: Federica Buonocore, Monika Balys, Glenn Anderson, John C. Achermann
المصدر: F1000Research, Vol 12 (2024)
مصطلحات موضوعية: SAMD9, endosomes, MIRAGE syndrome, transmission electron microscopy., eng, Medicine, Science
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: John C. Achermann
المصدر: EBioMedicine, Vol 100, Iss , Pp 104984- (2024)
مصطلحات موضوعية: Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352396424000197Test; https://doaj.org/toc/2352-3964Test
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4دورية أكاديمية
المؤلفون: Jenifer P. Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, Sinead M. McGlacken-Byrne, Federica Buonocore, Ignacio del Valle, Gaganjit Kaur Madhan, Tony Brooks, Gerard S. Conway, John C. Achermann
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: Turner syndrome, X chromosome, monosomy, diabetes mellitus, hypothyroidism, autoimmunity, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1227164/fullTest; https://doaj.org/toc/1664-2392Test
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5دورية أكاديمية
المؤلفون: Ignacio del Valle, Matthew D. Young, Gerda Kildisiute, Olumide K. Ogunbiyi, Federica Buonocore, Ian C. Simcock, Eleonora Khabirova, Berta Crespo, Nadjeda Moreno, Tony Brooks, Paola Niola, Katherine Swarbrick, Jenifer P. Suntharalingham, Sinead M. McGlacken-Byrne, Owen J. Arthurs, Sam Behjati, John C. Achermann
المصدر: JCI Insight, Vol 8, Iss 14 (2023)
مصطلحات موضوعية: Development, Endocrinology, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2379-3708Test
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6دورية أكاديمية
المؤلفون: Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: SAMD9, FGR, NGS, adrenal insufficiency, endocrinopathies, myelodysplastic syndrome (MDS), Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.953707/fullTest; https://doaj.org/toc/1664-2392Test
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7دورية أكاديمية
المؤلفون: Matthew D. Young, Thomas J. Mitchell, Lars Custers, Thanasis Margaritis, Francisco Morales-Rodriguez, Kwasi Kwakwa, Eleonora Khabirova, Gerda Kildisiute, Thomas R. W. Oliver, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Federico Comitani, Alice Piapi, Eva Bugallo-Blanco, Christine Thevanesan, Christina Burke, Elena Prigmore, Kirsty Ambridge, Kenny Roberts, Felipe A. Vieira Braga, Tim H. H. Coorens, Ignacio Del Valle, Anna Wilbrey-Clark, Lira Mamanova, Grant D. Stewart, Vincent J. Gnanapragasam, Dyanne Rampling, Neil Sebire, Nicholas Coleman, Liz Hook, Anne Warren, Muzlifah Haniffa, Marcel Kool, Stefan M. Pfister, John C. Achermann, Xiaoling He, Roger A. Barker, Adam Shlien, Omer A. Bayraktar, Sarah A. Teichmann, Frank C. Holstege, Kerstin B. Meyer, Jarno Drost, Karin Straathof, Sam Behjati
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-19 (2021)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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8دورية 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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9دورية أكاديمية
المؤلفون: Naseer Ali, Avinaash Vickram Maharaj, Federica Buonocore, John C. Achermann, Louise A. Metherell
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: primary adrenal insufficiency, isolated glucocorticoid deficiency, STAR, CYP11A1 (P450scc), puberty, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.860055/fullTest; https://doaj.org/toc/1664-2392Test
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10دورية أكاديمية
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
مصطلحات موضوعية: adrenal insufficiency, Addison's disease, adrenal hypoplasia, congenital adrenal hyperplasia, glucocorticoid, DAX-1, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2020.619041/fullTest; https://doaj.org/toc/2296-2360Test