المؤلفون: Robert Rapaport, Jan M Wit, Martin O Savage

المصدر: Endocrine Connections, Vol 10, Iss 3, Pp R125-R138 (2021)

مصطلحات موضوعية: linear growth, short stature, small for gestational age, idiopathic short stature, genotyping, growth hormone therapy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/10/3/EC-20-0585.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/b5a029758c764a0e8506ca0fd3ed04dd

المؤلفون: Paula van Dommelen, Ekaterina Koledova, Jan M Wit

المصدر: PLoS ONE, Vol 13, Iss 10, p e0206009 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6200242?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c080ce6958da4310a96bf4964e98257d

المؤلفون: Aslı Derya Kardelen, Esin Karakılıç Özturan, Şükran Poyrazoğlu, Firdevs Baş, Serdar Ceylaner, Sjoerd D. Joustra, Jan M. Wit, Feyza Darendeliler

المصدر: JCRPE, Vol 15, Iss 4, Pp 431-437 (2023)

مصطلحات موضوعية: igsf1, central hypothyroidism, short stature, large for gestational age, growth hormone deficiency, prolactin eficiency, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://jcrpe.org/jvi.aspx?un=JCRPE-92063&volume=15&issue=4; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/26c5c42b08f8451b819dcab51f432758

المؤلفون: Remco Visser, Ellie B M Landman, Jelle Goeman, Jan M Wit, Marcel Karperien

المصدر: PLoS ONE, Vol 7, Iss 11, p e49229 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3498325?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/87cb2a955706443e8317ffd9265694e8

المؤلفون: Birgit Weiss, Tim Ott, Philipp Vick, Julian C. Lui, Ralph Roeth, Sebastian Vogel, Stephan Waldmüller, Sandra Hoffmann, Jeffrey Baron, Jan M. Wit, Gudrun A. Rappold

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: isolated tall stature, growth plate, NAV2, all-trans retinoic acid, oligogenic inheritance, IFT140, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1258313/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/b5a12474807949e08787b07642f023bf

المؤلفون: Hester Vlaardingerbroek, Sjoerd D Joustra, Wilma Oostdijk, Christiaan de Bruin, Jan M Wit

المصدر: Hormone Research in Paediatrics.

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::795b610acbe8376714aab8643bbdf73d
https://doi.org/10.1159/000530644

المؤلفون: Jan M Wit, Sjoerd D Joustra

المصدر: European Journal of Endocrinology. 188

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cfdeb4b11c0b60aabfd6f5bb35966e52
https://doi.org/10.1093/ejendo/lvac005

المؤلفون: Gonul Catli, Wen Gao, Corinne Foley, Berk Özyilmaz, Neslihan Edeer, Gulden Diniz, Monique Losekoot, Jaap van Doorn, Andrew Dauber, Bumin N. Dundar, Jan M. Wit, Vivian Hwa

المساهمون: İstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Gönül Çatlı / 0000-0002-0488-6377, Çatlı, Gönül, Gönül Çatlı / EOU-3210-2022, Gönül Çatlı / 35783928000

مصطلحات موضوعية: lung disease, dwarfism, frameshift mutation, somatomedin binding protein, Immune deficiency, growth hormone insensitivity, Biochemistry, somatomedin, Endocrinology, genetic variability, STAT5 Transcription Factor, genetics, Insulin-Like Growth Factor I, bone age, clinical article, delayed puberty, unclassified drug, prolactin blood level, STAT5b protein, female, human growth hormone, disease severity, eczema, hormone resistance, prolactin, insulin growth factor II, STAT5B deficiency, STAT5 protein, protein deficiency, Article, amenorrhea, loss of function mutation, case report, Humans, human, Molecular Biology, protein expression, STAT5B gene, B lymphocyte, disease association, Immunologic Deficiency Syndromes, insulin growth factor I, somatomedin C, short stature, STAT5B, STAT5B protein, human, adolescent, Growth Hormone, homozygosity, acid labile subunit protein, hypergammaglobulinemia, metabolism

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d50b5b18d1ef6de0654caf7d12303ec
https://hdl.handle.net/11454/79578

المؤلفون: Peter Lauffer, Gerard Pals, Aeilko H. Zwinderman, Floor A. M. Postema, Marieke J. H. Baars, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Arjan C. Houweling, Marlies Kempers, Ingrid P. C. Krapels, Ingrid M. B. H. van de Laar, Bart Loeys, Alexander M. J. Spaans, Jessica Warnink‐Kavelaars, Vivian de Waard, Jan M. Wit, Leonie A. Menke

المساهمون: Graduate School, Paediatric Pulmonology, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, General Paediatrics, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, Rehabilitation medicine, AMS - Rehabilitation & Development, ARD - Amsterdam Reproduction and Development, Medical Biochemistry, ACS - Atherosclerosis & ischemic syndromes, AII - Inflammatory diseases, ANS - Complex Trait Genetics, Clinical Genetics, MUMC+: DA KG Polikliniek (9), RS: Carim - H02 Cardiomyopathy, Pediatrics, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Epidemiology and Data Science, APH - Methodology, Amsterdam Cardiovascular Sciences, Medical Biology, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics

المصدر: American journal of medical genetics. Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 191, 2, pp. 479-489
The American Journal of Medical Genetics-Part A, 191(2), 479-489. WILEY
American Journal of Medical Genetics, Part A, 191(2), 479-489. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 191(2), 479-489. Wiley
American Journal of Medical Genetics. Part A, 191, 479-489
American journal of medical genetics : part A
American Journal of Medical Genetics, Part A, 191(2). Wiley
American journal of medical genetics. Part A. Wiley-Liss Inc.
Lauffer, P, Pals, G, Zwinderman, A H, Postema, F A M, Baars, M J H, Dulfer, E, Hilhorst-Hofstee, Y, Houweling, A C, Kempers, M, Krapels, I P C, van de Laar, I M B H, Loeys, B, Spaans, A M J, Warnink-Kavelaars, J, de Waard, V, Wit, J M & Menke, L A 2023, ' Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 479-489 . https://doi.org/10.1002/ajmg.a.63047

مصطلحات موضوعية: Marfan syndrome, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], haploinsufficiency variant, Genetics, weight, Human medicine, dominant-negative variant, growth charts, Genetics (clinical), height

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf63bc3c8b0e7ba50b2144750c962866
https://doi.org/10.1002/ajmg.a.63047

المؤلفون: Werner F Blum, Michael B Ranke, Eberhard Keller, Alexandra Keller, Sandra Barth, Christiaan de Bruin, Stefan A Wudy, Jan M Wit

المصدر: Journal of the Endocrine Society, 6(7). ENDOCRINE SOC

مصطلحات موضوعية: bone age, idiopathic short stature, Endocrinology, Diabetes and Metabolism, growth, adult height prediction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126acd476c6bc0053154aa99328dda7b
http://hdl.handle.net/1887/3575996