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1دورية أكاديمية
المؤلفون: Nao Shibata, Chikahiko Numakura, Takashi Hamajima, Kenichi Miyako, Ikuma Fujiwara, Jun Mori, Akihiko Saitoh, Keisuke Nagasaki
المصدر: Endocrine Journal, Vol 71, Iss 5, Pp 471-480 (2024)
مصطلحات موضوعية: central congenital hypothyroidism, tsh deficiency, newborn screening, immunoglobulin superfamily 1 (igsf1), transducin-beta-like protein 1 x-linked (tbl1x), Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.jstage.jst.go.jp/article/endocrj/71/5/71_EJ23-0391/_html/-char/enTest; https://doaj.org/toc/1348-4540Test
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2دورية أكاديمية
المؤلفون: Peter Lauffer, Nitash Zwaveling-Soonawala, Jolanda C. Naafs, Anita Boelen, A. S. Paul van Trotsenburg
المصدر: Frontiers in Endocrinology, Vol 12 (2021)
مصطلحات موضوعية: central congenital hypothyroidism, isolated central congenital hypothyroidism, combined pituitary hormone deficiencies, etiology, diagnosis, management, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.686317/fullTest; https://doaj.org/toc/1664-2392Test
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3دورية أكاديمية
المؤلفون: Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann
المصدر: International Journal of Molecular Sciences; Volume 20; Issue 22; Pages: 5564
مصطلحات موضوعية: central congenital hypothyroidism, G-protein coupled receptors, thyroid-stimulating hormone, TSHR
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms20225564Test
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4دورية أكاديمية
المؤلفون: Kalveram, Laura, Kleinau, Gunnar, Szymańska, Kamila, Scheerer, Patrick, Rivero-Müller, Adolfo, Grüters-Kieslich, Annette, Biebermann, Heike
مصطلحات موضوعية: central congenital hypothyroidism, G-protein coupled receptors, thyroid-stimulating hormone, TSHR, ddc:610
وصف الملف: application/pdf
العلاقة: https://refubium.fu-berlin.de/handle/fub188/26476Test; http://dx.doi.org/10.17169/refubium-26236Test
الإتاحة: https://doi.org/10.17169/refubium-26236Test
https://doi.org/10.3390/ijms20225564Test
https://refubium.fu-berlin.de/handle/fub188/26476Test -
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المؤلفون: Peter Lauffer, Hennie Bikker, Anita Boelen, Jasper J. Jöbsis, A. S. Paul van Trotsenburg, Nitash Zwaveling-Soonawala
المساهمون: Pediatrics, Graduate School, Paediatric Endocrinology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development (AR&D), Laboratory for Endocrinology, Amsterdam Neuroscience - Complex Trait Genetics, Paediatrics
المصدر: Lauffer, P, Bikker, H, Boelen, A, Jöbsis, J J, van Trotsenburg, A S P & Zwaveling-Soonawala, N 2022, ' Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB : A Case Report ', Thyroid, vol. 32, no. 4, pp. 472-474 . https://doi.org/10.1089/thy.2021.0651Test
Thyroid, 32(4), 472-474. Mary Ann Liebert Inc.مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, TSHβ, isolated central congenital hypothyroidism, protein modeling
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d22c370d448595c9661341ae841f24c7Test
https://doi.org/10.1089/thy.2021.0651Test -
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المؤلفون: A S Paul van Trotsenburg, Jolanda C. Naafs, Peter Lauffer, Anita Boelen, Nitash Zwaveling-Soonawala
المصدر: Frontiers in Endocrinology
Frontiers in Endocrinology, Vol 12 (2021)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hormone Replacement Therapy, diagnosis, Endocrinology, Diabetes and Metabolism, etiology, Immunoglobulins, Thyrotropin, beta Subunit, Review, Hypoglycemia, Diseases of the endocrine glands. Clinical endocrinology, pituitary stalk interruption syndrome, Neonatal Screening, Endocrinology, combined pituitary hormone deficiencies, Congenital Hypothyroidism, medicine, Humans, Transducin, business.industry, Incidence (epidemiology), Thyroid, Infant, Newborn, Membrane Proteins, Jaundice, Prognosis, medicine.disease, RC648-665, Congenital hypothyroidism, IGSF1, Thyroxine, medicine.anatomical_structure, central congenital hypothyroidism, Insulin Receptor Substrate Proteins, Etiology, medicine.symptom, business, isolated central congenital hypothyroidism, management, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15fadb6a53863297e46c44c82378e947Test
http://www.scopus.com/inward/record.url?scp=85115620764&partnerID=8YFLogxKTest -
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المؤلفون: Peter Lauffer (2639692), Nitash Zwaveling-Soonawala (5043473), Jolanda C. Naafs (11411036), Anita Boelen (744728), A. S. Paul van Trotsenburg (7708376)
مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, central congenital hypothyroidism, isolated central congenital hypothyroidism, combined pituitary hormone deficiencies, etiology, diagnosis, management, pituitary stalk interruption syndrome
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المؤلفون: Robert de Jonge, Annet M. Bosch, Catharina P. B. Van der Ploeg, Nitash Zwaveling-Soonawala, Annemieke C. Heijboer, A S Paul van Trotsenburg, Kevin Stroek, Marja van Veen-Sijne, Anita Boelen
المساهمون: Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory for Endocrinology, Paediatric Metabolic Diseases, Paediatric Endocrinology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Neuroscience - Complex Trait Genetics, Clinical chemistry, Amsterdam Reproduction & Development (AR&D), Pediatric surgery
المصدر: Stroek, K, Heijboer, A C, van Veen-Sijne, M, Bosch, A M, van der Ploeg, C P B, Zwaveling-Soonawala, N, de Jonge, R, van Trotsenburg, A S P & Boelen, A 2021, ' Improving the Dutch newborn screening for central congenital hypothyroidism by using 95% reference intervals for thyroxine-binding globulin ', EUROPEAN THYROID JOURNAL, vol. 10, no. 3, pp. 222-229 . https://doi.org/10.1159/000513516Test
Eur Thyroid J
European thyroid journal, 10(3), 222-229. S. Karger AG
EUROPEAN THYROID JOURNAL, 10(3), 222-229. S. Karger AGمصطلحات موضوعية: Newborn screening, medicine.medical_specialty, biology, Globulin, Clinical Thyroidology / Research Article, business.industry, Endocrinology, Diabetes and Metabolism, Reference intervals, medicine.disease, Central congenital hypothyroidism, Dried blood spot, Congenital hypothyroidism, TBG Deficiency, Thyroxine, Thyroxine-binding globulin, Endocrinology, Internal medicine, medicine, biology.protein, Reference population, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de61645b6762a371d549adc84fad0a2Test
https://research.vumc.nl/en/publications/82818798-9e26-4f01-b957-d31f736f7892Test -
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المؤلفون: Alex V. Postma, Marcel M.A.M. Mannens, Sonja Faries, Eline A. Verberne, Mieke M. van Haelst
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Medical Biology, ACS - Heart failure & arrhythmias
المصدر: American Journal of Medical Genetics, Part A, 182(8), 1952-1956. Wiley-Liss Inc.
Verberne, E A, Faries, S, Mannens, M M A M, Postma, A V & van Haelst, M M 2020, ' Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency ', American Journal of Medical Genetics, Part A, vol. 182, no. 8, pp. 1952-1956 . https://doi.org/10.1002/ajmg.a.61632Test
American Journal of Medical Genetics. Part a
American journal of medical genetics. Part A, 182(8), 1952-1956. Wiley-Liss Inc.مصطلحات موضوعية: growth hormone deficiency, Delayed puberty, Genetics, Clinical Report, Intron, developmental delay/intellectual deficiency, Biology, medicine.disease, RNPC3, Phenotype, Clinical Reports, Congenital hypothyroidism, Growth hormone deficiency, minor spliceosome, congenital cataract, Minor spliceosome, central congenital hypothyroidism, RNA splicing, medicine, medicine.symptom, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c33e6c3cf2118404a63691f26980472Test
https://research.vumc.nl/en/publications/85bc3986-ab76-4d6c-9d62-a6edcf8b1695Test -
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المؤلفون: Stroek K. (10260704), Heijboer A.C. (10260707), vanVeen-Sijne M. (10260710), Bosch A.M. (3856564), vanderPloeg C.P.B. (10260713), Zwaveling-Soonawala N. (4777761), deJonge R. (10260716), vanTrotsenburg A.S.P. (9177425), Boelen A. (5752625)
مصطلحات موضوعية: Medicine, Newborn screening, Central congenital hypothyroidism, Reference intervals, Thyroxine, Thyroxine-binding globulin
النص الكامل