المؤلفون: Athanasia Stoupa, Ghada Al Hage Chehade, Rim Chaabane, Dulanjalee Kariyawasam, Gabor Szinnai, Sylvain Hanein, Christine Bole-Feysot, Cécile Fourrage, Patrick Nitschke, Caroline Thalassinos, Graziella Pinto, Mouna Mnif, Sabine Baron, Marc De Kerdanet, Rachel Reynaud, Pascal Barat, Mongia Hachicha, Neila Belguith, Michel Polak, Aurore Carré

المصدر: Frontiers in Endocrinology, Vol 11 (2021)

مصطلحات موضوعية: congenital hypothyroidism, dyshormonogenesis, mutations, targeted next-generation sequencing, gland in situ, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2020.545339/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/940eef7e0d604b4bb6f77fa5168db589Test

المؤلفون: Akie Nakamura, Eriko Fujita-Jimbo, Khishigjargal Batjargal, Takanori Yamagata, Takeshi Yamaguchi, Toshihiro Tajima

المصدر: Clinical Pediatric Endocrinology. 2022, 31(4):234

المؤلفون: Fengqi Wang, Yucui Zang, Miaomiao Li, Wenmiao Liu, Yangang Wang, Xiaolong Yu, Hua Li, Fang Wang, Shiguo Liu

المصدر: Frontiers in Endocrinology, Vol 11 (2020)

مصطلحات موضوعية: congenital hypothyroidism, thyroid dysgenesis, gland-in-situ, multiple allele, DUOX2, DUOXA2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fendo.2020.00237/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/f15a357bba1a4f96ac6854a432dc9497Test

المؤلفون: Nadia Schoenmakers, Erik Schoenmakers, Catherine Peters, Shirley Langham, Neil J. Sebire, Eva Goncalves Serra, Marina Muzza, Adeline K Nicholas, Greta Lyons, Laura Fugazzola

المساهمون: Schoenmakers, Erik [0000-0003-0674-8282], Schoenmakers, Nadia [0000-0002-0847-2884], Apollo - University of Cambridge Repository

المصدر: Thyroid

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, dyshormonogenesis, endocrine system diseases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neonatal Screening, medicine, Humans, DUOX2, gland in situ, Newborn screening, business.industry, gland, Infant, Newborn, DUOXA2, Membrane Proteins, congenital hypothyroidism, medicine.disease, Infant newborn, Dual Oxidases, United Kingdom, 3. Good health, Congenital hypothyroidism, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Mutation, Etiology, Female, business, Thyroid Dysfunction: Hypothyroidism, Thyrotoxicosis, and Thyroid Function Tests

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/octet-stream; image/tiff

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ad5eb73041b937fd42f74707b87ea6Test
http://europepmc.org/articles/PMC6588112Test

المؤلفون: Fengqi Wang, Yucui Zang, Miaomiao Li, Wenmiao Liu, Yangang Wang, Xiaolong Yu, Hua Li, Fang Wang, Shiguo Liu

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, congenital hypothyroidism, thyroid dysgenesis, gland-in-situ, multiple allele, DUOX2, DUOXA2

العلاقة: https://figshare.com/articles/dataset/Table_1_DUOX2_and_DUOXA2_Variants_Confer_Susceptibility_to_Thyroid_Dysgenesis_and_Gland-in-situ_With_Congenital_Hypothyroidism_DOCX/12160896Test

الإتاحة: https://doi.org/10.3389/fendo.2020.00237.s001Test
https://figshare.com/articles/dataset/Table_1_DUOX2_and_DUOXA2_Variants_Confer_Susceptibility_to_Thyroid_Dysgenesis_and_Gland-in-situ_With_Congenital_Hypothyroidism_DOCX/12160896Test

المؤلفون: Peters C, Nicholas AK, Schoenmakers E, Lyons G, Langham S, Serra EG, Sebire NJ, Muzza M, Fugazzola L, Schoenmakers N.

المساهمون: C. Peter, A. Nichola, E. Schoenmaker, G. Lyon, S. Langham, E. Serra, N. Sebire, M. Muzza, L. Fugazzola, N. Schoenmakers

مصطلحات موضوعية: congenital hypothyroidism, DUOX2, DUOXA2, dyshormonogenesi, gland in situ, Settore MED/13 - Endocrinologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31044655; info:eu-repo/semantics/altIdentifier/wos/WOS:000475978700006; volume:29; issue:6; firstpage:790; lastpage:801; numberofpages:12; journal:THYROID; http://hdl.handle.net/2434/655470Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85066942360

الإتاحة: https://doi.org/10.1089/thy.2018.0587Test
http://hdl.handle.net/2434/655470Test

المؤلفون: Akie Nakamura, Eriko Fujita-Jimbo, Khishigjargal Batjargal, Takanori Yamagata, Takeshi Yamaguchi, Toshihiro Tajima

المصدر: Clinical Pediatric Endocrinology. :2021-0065