日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

IGSF1 的功能丧失突变导致 X 连锁中枢性甲状腺功能减退症和睾丸增大综合征

Yu Sun, Beata Bak, Nadia Schoenmakers, A S Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K White, Paul le Tissier, S Neda Mousavy Gharavy, Juan P Martinez-Barbera, Wilhelmina H Stokvis-Brantsma, Thomas Vulsma, Marlies J Kempers, Luca Persani, Irene Campi, Marco Bonom

Thyroid hormone metabolism and environmental chemical exposure

甲状腺激素代谢和环境化学物质暴露

Leijs, Marike M; ten Tusscher, Gavin W; Olie, Kees; van Teunenbroek, Tom; van Aalderen, Wim M C; de Voogt, Pim; Vulsma, Tom; Bartonova, Alena; Krayer von Krauss, Martin; Mosoiu, Claudia; Riojas-Rodriguez, Horacio; Calamandrei, Gemma; Koppe, Janna G

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation

一名患有发育迟缓、癫痫和新生儿糖尿病(DEND)综合征且携带新型ABCC8基因突变的婴儿成功过渡到磺脲类药物治疗。

Zwaveling-Soonawala, N; Hagebeuk, E E; Slingerland, A S; Ris-Stalpers, C; Vulsma, T; van Trotsenburg, A S

Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients

21-羟化酶缺乏症患者生长发育和青春期的纵向分析

Van der Kamp, H J; Otten, B J; Buitenweg, N; De Muinck Keizer-Schrama, S M P F; Oostdijk, W; Jansen, M; Delemarre-de Waal, H A; Vulsma, T; Wit, J M

Final height in girls with Turner's syndrome treated with once or twice daily growth hormone injections. Dutch Advisory Group on Growth Hormone

接受每日一次或两次生长激素注射治疗的特纳综合征女孩的最终身高。荷兰生长激素咨询小组

Sas, T C; de Muinck Keizer-Schrama, S M; Stijnen, T; van Teunenbroek, A; Hokken-Koelega, A C; Waelkens, J J; Massa, G G; Vulsma, T; Gerver, W J; Reeser, H M; Delemarre-van de Waal, H E; Jansen, M; Drop, S L

Effects of pre- and postnatal exposure to chlorinated dioxins and furans on human neonatal thyroid hormone concentrations

产前和产后暴露于氯代二恶英和呋喃对人类新生儿甲状腺激素浓度的影响

Pluim, H J; de Vijlder, J J; Olie, K; Kok, J H; Vulsma, T; van Tijn, D A; van der Slikke, J W; Koppe, J G