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

"I felt like a little kind of jolt of energy in my chest": embodiment in learning in continuing professional development for general practitioners

“我感觉胸口像是有一股小小的能量涌上来”:全科医生继续职业发展中的具身学习

Vestergaard, Stense Kromann; Risor, Torsten

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect

人类骨骼发育不良伴房室间隔缺损中BMP5基因两个变异的复合杂合性。

Gregersen, Pernille Axél; Hammarsjö, Anna; Graversen, Lise; Brix, Nis; Lindelöf, Hillevi; Jensen, Uffe Birk; Farholt, Stense; Rubak, Sune; Bjerre, Jesper; Piticchio, Serena G; Terkelsen, Thorkild; Nishimura, Gen; Hellfritzsch, Michel Bach; Grigelioniene, Giedre

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature

KBG综合征神经影像学和骨骼特征的深度表型分析:一项包含53例患者的研究及文献综述

Peluso, Francesca; Caraffi, Stefano G; Contrò, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A; Farholt, Stense; Ferreira, Carlos R; Wolfe, Lynne A; Gahl, William A; Gnazzo, Maria; Goel, Himanshu; Grønborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P; Sawyer, Sarah; Falkenberg Smeland, Marie; Stegmann, Sander; Stumpel, Constanze T; Goel, Amy; Taylor, Juliet M; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan

Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study

丹麦1型神经纤维瘤病和丛状神经纤维瘤患儿及成人的临床特征和治疗:一项全国性研究

Ejerskov, Cecilie; Farholt, Stense; Nielsen, Flemming Secher Kromann; Berg, Ingunn; Thomasen, Stine Bogetofte; Udupi, Aparna; Ågesen, Trude; de Fine Licht, Sofie; Handrup, Mette Møller

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

在胎儿队列研究中发现科芬-西里斯综合征表型谱的新部分

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W E

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

丹麦COL3A1致病变异携带者:择期手术严重程度和结果的家族间差异

Sølyst, Sofus; Oksjoki, Riina; Farholt, Stense; Nielsen, Dorte Guldbrand; Christensen, Alex H; Fagerberg, Christina R; Risom, Lotte; Gregersen, Pernille Axél; Christensen, Maria Bejerholm; Rasmussen, Torsten Bloch; Diness, Birgitte Rode

Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome

生长激素治疗对普拉德-威利综合征成年患者睡眠相关参数的影响

Shukur, Hasanain Hamid; Hussain-Alkhateeb, Laith; Farholt, Stense; Nørregaard, Ole; Jørgensen, Anders Palmstrøm; Hoybye, Charlotte

Pharmacy Interns' Perception of Their Professional Role

药学实习生对其职业角色的认知

Vestergaard, Stense; Nørgaard, Lotte Stig; Traulsen, Janine Marie; Kaae, Susanne

A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation

一项关于普拉德-威利综合征成人患者结直肠功能的描述性研究:便秘患病率高

Kuhlmann, Louise; Joensson, Iben Moeller; Froekjaer, Jens Broendum; Krogh, Klaus; Farholt, Stense