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

Comparison of BoneXpert and IB-Lab-PANDA automated Bone Age Evaluation in Children With Growth and Puberty Disorders

比较 BoneXpert 和 IB-Lab-PANDA 自动骨龄评估在生长发育障碍儿童中的应用

Ruiz-Arana, Inge-Lore; Lechanteur, Victor; Busiah, Kanetee; Bouthors, Thérèse; Antoniou, Maria-Christina; Stoppa-Vaucher, Sophie; Ruspa, Martina; Alamo, Leonor; Hauschild, Michael

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019

2000年至2019年瑞士儿科内分泌护理中心性别发育差异患病率

Metzger, Sara; Aebi-Ochsner, Christine; Busiah, Kanetee; Dirlewanger, Mirjam; Gschwend, Sylvia; Hess, Melanie; Kuhlmann, Beatrice; l'Allemand, Dagmar; Lang-Muritano, Mariarosaria; Noordam, Kees; Phan-Hug, Franziska; Probst, Ursina; Santi, Maristella; Schmid, Silvia; Schwitzgebel, Valérie; Steigert, Michael; Szinnai, Gabor; Theintz, Gerald; Sommer, Grit; Flück, Christa E

The gender incongruence module in the European Registries for Rare Endocrine & Bone Conditions (EuRREB): first results, current insights, and future directions

欧洲罕见内分泌与骨骼疾病登记系统(EuRREB)中的性别不一致模块:初步结果、当前见解和未来方向

Ciancia, Silvia; Cherenko, Mariya; Klink, Daniel; Busiah, Kanetee; Gawlik-Starzyk, Aneta; Kempinska, Wiktoria; Claahsen-van der Grinten, Hedi L; Ahmed, S Faisal; Hannema, Sabine E; Cools, Martine

Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibitors: A Position Statement from the Clinical Practice Committee of the European Society for Pediatric Endocrinology

接受免疫检查点抑制剂治疗的儿科患者的内分泌相关不良反应:欧洲儿科内分泌学会临床实践委员会的立场声明

Flück, Christa E; Kariyawasam, Dulanjalee; Ceppi, Francesco; Shalitin, Shlomit; Busiah, Kanetee

Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome

特纳综合征中部分性肺静脉异位连接的患病率和影响

Tenisch, Estelle; Gigliotti, Silvia; Lam, Jenny; Busiah, Kanetee; Kopp, Peter; Niel-Bütschi, Florence; Pitteloud, Nelly; Bouchardy, Judith; Sekarski, Nicole; Ladouceur, Magalie; Rutz, Tobias

Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

特纳综合征:皮肤、肝脏、眼睛、牙齿和耳鼻喉科的评估应有所改进

Lam, Jenny; Stoppa-Vaucher, Sophie; Antoniou, Maria Cristina; Bouthors, Thérèse; Ruiz, Inge; Sekarski, Nicole; Rutz, Tobias; Fries, Sophie; Binz, Pierre Alain; Bütschi, Florence Niel; Vulliemoz, Nicolas; Gawlik, Aneta; Pitteloud, Nelly; Hauschild, Michael; Busiah, Kanetee

Testicular tissue cryopreservation for fertility preservation in prepubertal and adolescent boys: A 6 year experience from a Swiss multi-center network

睾丸组织冷冻保存用于青春期前和青春期男孩生育力保存:瑞士多中心网络6年经验

Moussaoui, Dehlia; Surbone, Anna; Adam, Cécile; Diesch-Furlanetto, Tamara; Girardin, Céline; Bénard, Julie; Vidal, Isabelle; Bernard, Fanette; Busiah, Kanete; Bouthors, Thérèse; Primi, Marie-Pierre; Ansari, Marc; Vulliemoz, Nicolas; Gumy-Pause, Fabienne

Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8

先天性高胰岛素血症:两例病例报告,涉及ABCC8基因的不同罕见变异

Mouron-Hryciuk, Julie; Stoppa-Vaucher, Sophie; Busiah, Kanetee; Bouthors, Thérèse; Antoniou, Maria Christina; Jacot, Eric; Brusgaard, Klaus; Christesen, Henrik Thybo; Hussain, Khalid; Dwyer, Andrew; Roth-Kleiner, Matthias; Hauschild, Michael

Neonatal Diabetes Mellitus

新生儿糖尿病

Beltrand, Jacques; Busiah, Kanetee; Vaivre-Douret, Laurence; Fauret, Anne Laure; Berdugo, Marianne; Cavé, Hélène; Polak, Michel

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

LIPT2 双等位基因突变导致线粒体脂酰化缺陷,与严重新生儿脑病有关

Florence Habarou, Yamina Hamel, Tobias B Haack, René G Feichtinger, Elise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole