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

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study

血管型埃勒斯-当洛斯综合征的妊娠和分娩结局:一项回顾性多中心队列研究

van den Bersselaar, Lisa M; van de Laar, Ingrid M B H; Baars, Marieke J H; Baas, Annette; Dulfer, Eelco; Helderman-van den Enden, Apollonia T J M; Hilhorst-Hofstee, Yvonne; Kauling, Robert M; Kempers, Marlies J E; Oudijk, Martijn A; Maugeri, Alessandra; Brüggenwirth, Hennie T; Houweling, Arjan C; Demirdas, Serwet

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

AB040. Subclinical myasthenia gravis after thymectomy: a 20-year retrospective cohort study

AB040. 胸腺切除术后亚临床重症肌无力:一项20年回顾性队列研究

Balasubramanian, Meena; Dingemans, Alexander J M; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H; Burke, Katherine B; Fry, Andrew E; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske; Marcuse, Florit; Hoeijmakers, Janneke; Abdul Hamid, Myrurgia; Romeo, Jamie; Maessen, Jos; Peeters, Stephanie; Damoiseaux, Jan; Martinez, Pilar; Hochstenbag, Monique; De Baets, Marc

Tenascin-X Deficiency Causing Classical-Like Ehlers-Danlos Syndrome Type 1 in Humans is a Significant Risk Factor of Gastrointestinal and Tracheal Ruptures

Tenascin-X 缺乏症可导致人类出现类似经典型的埃勒斯-当洛斯综合征 1 型,这是胃肠道和气管破裂的重要危险因素。

van Gurp, Jonneke E; Lechner, Rosan L; Micha, Dimitra; Maugeri, Alessandra; Dulfer, Eelco; van Dijk, Fleur S; Keszthelyi, Daniel; Malfatti, Edoardo; Kubo, Akiharu; Voermans, Nicol C; Demirdas, Serwet

Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due to PLS3 genetic variants

荷兰一组患有由PLS3基因变异引起的X连锁骨质疏松症患者的表型和遗传特征

Zervou, Zografia; Bruggenwirth, Hennie T; Demirdas, Serwet; Zillikens, M Carola

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

生殖系ERG单倍体不足定义了一种新的综合征,其特征是血细胞减少和血液系统恶性肿瘤易感性

Zerella, Jiarna R; Homan, Claire C; Arts, Peer; Lin, Xuzhu; Spinelli, Sam J; Venugopal, Parvathy; Babic, Milena; Brautigan, Peter J; Truong, Lynda; Arriola-Martinez, Luis; Moore, Sarah; Hollins, Rachel; Parker, Wendy T; Nguyen, Hung; Kassahn, Karin S; Branford, Susan; Feurstein, Simone; Larcher, Lise; Sicre de Fontbrune, Flore; Demirdas, Serwet; de Munnik, Sonja; Antoine-Poirel, Hélène; Brichard, Benedicte; Mansour, Sahar; Gordon, Kristiana; Wlodarski, Marcin W; Koppayi, Ashwin; Dobbins, Sara; Mutsaers, Pim G N J; Nichols, Kim E; Oak, Ninad; DeMille, Desiree; Mao, Rong; Crawford, Ali; McCarrier, Julie; Basel, Donald; Flores-Daboub, Josue; Drazer, Michael W; Phillips, Kerry; Poplawski, Nicola K; Birdsey, Graeme M; Pirri, Daniela; Ostergaard, Pia; Simons, Annet; Godley, Lucy A; Ross, David M; Hiwase, Devendra K; Soulier, Jean; Brown, Anna L; Carmichael, Catherine L; Scott, Hamish S; Hahn, Christopher N

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

血管型埃勒斯-当洛斯综合征:一项针对荷兰142例患者的全国性队列的综合自然史研究

Demirdas, Serwet; van den Bersselaar, Lisa M; Lechner, Rosan; Bos, Jessica; Alsters, Suzanne I M; Baars, Marieke J H; Baas, Annette F; Baysal, Özlem; van der Crabben, Saskia N; Dulfer, Eelco; Giesbertz, Noor A A; Helderman-van den Enden, Apollonia T J M; Hilhorst-Hofstee, Yvonne; Kempers, Marlies J E; Komdeur, Fenne L; Loeys, Bart; Majoor-Krakauer, Daniëlle; Ockeloen, Charlotte W; Overwater, Eline; van Tintelen, Peter J; Voorendt, Marsha; de Waard, Vivian; Maugeri, Alessandra; Brüggenwirth, Hennie T; van de Laar, Ingrid M B H; Houweling, Arjan C

Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder

EFEMP1基因的双等位基因和单等位基因变异可导致一种严重且独特的遗传性结缔组织疾病亚型。

Mol, M O; van Ham, T J; Bannink, N; Bruggenwirth, H T; Escher, J C; Kros, J M; Renkens, J J M; van Unen, L; Verdijk, R M; Vlot, J; Verhoeven, V J M; Demirdas, S

Virtual reality-guided therapy on a stroke unit: a feasibility study

虚拟现实引导疗法在卒中单元的应用:可行性研究

Kühne Escolà, Jordi; Demirdas, Rumeysa; Schulze, Martin; Chae, Woon Hyung; Milles, Lennart Steffen; Pommeranz, Doreen; Oppong, Marvin Darkwah; Kleinschnitz, Christoph; Köhrmann, Martin; Frank, Benedikt

Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines

高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍患者的生育管理:范围界定综述和专家共同制定循证临床指南

Pezaro, Sally; Brock, Isabelle; Buckley, Maggie; Callaway, Sarahann; Demirdas, Serwet; Hakim, Alan; Harris, Cheryl; High Gross, Carole; Karanfil, Megan; Le Ray, Isabelle; McGillis, Laura; Nasar, Bonnie; Russo, Melissa; Ryan, Lorna; Blagowidow, Natalie