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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
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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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
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2379-3708Test
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5دورية أكاديمية
المؤلفون: Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann
المصدر: F1000Research, Vol 8 (2019)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Amélie Calmont, Naomi Anderson, Jenifer P. Suntharalingham, Richard Ang, Andrew Tinker, Peter J. Scambler
المصدر: Journal of Cardiovascular Development and Disease, Vol 5, Iss 4, p 49 (2018)
مصطلحات موضوعية: Tbx1, DiGeorge Syndrome, neural crest cells, cranial nerves, innervation, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Wafa Kallali, Ewan Gray, Muhammad Zain Mehdi, Robert Lindsay, Louise A. Metherell, Federica Buonocore, Jenifer P Suntharalingham, John C. Achermann, M D C Donaldson
مصطلحات موضوعية: Molecular Biology of Steroidogenesis and Disorders, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Diagnosis and Management of Adrenal Insufficiency, Endocrinology, Diabetes and Metabolism, Medicine, Health Sciences, Management of Primary Aldosteronism, Congenital Adrenal Hyperplasia, Internal medicine, Endocrinology, Congenital adrenal hyperplasia, Compound heterozygosity, Fludrocortisone, Frameshift mutation, Proband, Biology, Hydrocortisone, Mutation, Genetics, FOS Biological sciences, Gene
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8
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 -
9
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 -
10
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