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1دورية 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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2دورية 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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3دورية 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
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4دورية 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
العلاقة: https://doi.org/10.1172/jci.insight.154671Test; https://doaj.org/toc/2379-3708Test; https://doaj.org/article/8de8a399e8464d42b747b0aa3003ebbcTest
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb91e24567ec9693cf635522fd283844Test
https://doi.org/10.1101/2022.12.13.520231Test -
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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
مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, Turner syndrome, X chromosome, monosomy, diabetes mellitus, hypothyroidism, autoimmunity
الإتاحة: https://doi.org/10.3389/fendo.2023.1227164.s001Test
https://figshare.com/articles/dataset/DataSheet_1_Analysis_of_genetic_variability_in_Turner_syndrome_linked_to_long-term_clinical_features_pdf/24165762Test -
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المؤلفون: Polona Le Quesne Stabej, Beatriz Corredor, Robin Lovell Badge, Selim Kurtoglu, Karine Rizzoti, Louise C. Gregory, Andrea Accogli, Gabriel Á. Martos-Moreno, Hywel T. P. Williams, Luis A. Pérez-Jurado, John C. Achermann, Mehul T. Dattani, Zeynep Burçin Gönen, Sinead M. McGlacken-Byrne, Leyla Akin, Valeria Capra, Jenifer P. Suntharalingham, Stephane Mouilleron, Mohamad Maghnie, Velibor Tasic, Stefano Gustincich, Aleksandra Filipovska, Dimitar N. Azmanov, Christophe Galichet, Zoran Gucev, Iain C.A.F. Robinson, Mustafa Kendirci, Anatoly Tuilpakov, Jesús Argente, Federica Buonocore
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Male, medicine.medical_specialty, Hypopituitarism, In situ hybridization, Biology, Primary Ovarian Insufficiency, Mice, Minor spliceosome, Internal medicine, U12-type spliceosome, medicine, Animals, Humans, Genetics (clinical), Growth hormone deficiency, Primary ovarian insufficiency, Nuclear Proteins, RNA-Binding Proteins, medicine.disease, Phenotype, Hypoprolactinemia, Pedigree, Prolactin, Endocrinology, Hypothalamus, Forebrain, Female, General Economics, Econometrics and Finance, Hormone
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59bd1715ee8af88c72803ed53f509850Test
https://doi.org/10.1530/ey.19.1.7Test -
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المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 8 (2020)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Mini Review, 030209 endocrinology & metabolism, Hypoglycemia, genetic testing, 03 medical and health sciences, 0302 clinical medicine, Adrenal insufficiency, medicine, congenital adrenal hyperplasia, Congenital adrenal hyperplasia, Genetic testing, medicine.diagnostic_test, business.industry, Adrenal hypoplasia, lcsh:RJ1-570, lcsh:Pediatrics, Jaundice, medicine.disease, 030104 developmental biology, MIRAGE syndrome, Addison's disease, Pediatrics, Perinatology and Child Health, glucocorticoid, medicine.symptom, business, adrenal insufficiency, adrenal hypoplasia, DAX-1, Glucocorticoid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d337e711543f36cf465a298f3f1fb06Test
http://europepmc.org/articles/PMC7767829Test -
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المؤلفون: Kathleen M. Gorman, Michael Farrell, Sinead M McGlacken-Byrne, Niamh K Lagan, Mary D. King, Ian Robinson
المصدر: Journal of Paediatrics and Child Health. 54:929-930
مصطلحات موضوعية: Medulloblastoma, business.industry, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Nuclear magnetic resonance, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Medicine, Identification (biology), business, Contrast-enhanced Magnetic Resonance Imaging, 030217 neurology & neurosurgery, Differential (mathematics)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ed55b00f87cbe44a55ed72ef5696c33aTest
https://doi.org/10.1111/jpc.14094Test