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

Cancer risk in patients with pulmonary fibrosis and a rare telomere related gene variant

患有肺纤维化和罕见端粒相关基因变异的患者的癌症风险

van der Vis, Joanne J; Maus, Martijn T K; de Bie, Charlotte I; van der Smagt, Jasper J; Daenen, Laura G M; van Oosterhout, Matthijs F M; Grutters, Jan C; van Moorsel, Coline H M

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

TRAPPC6B双等位基因变异会导致一种伴有TRAPP II和转运障碍的神经发育障碍。

Hashem Almousa ,Sara A Lewis ,Somayeh Bakhtiari ,Sandra Hinz Nordlie ,Alex Pagnozzi ,Helen Magee ,Stephanie Efthymiou ,Jennifer A Heim ,Patricia Cornejo ,Maha S Zaki ,Najwa Anwar ,Shazia Maqbool ,Fatima Rahman ,Derek E Neilson ,Anusha Vemuri ,Sheng Chih Jin ,Xiao-Ru Yang ,Abolfazl Heidari ,Koen van Gassen ,Aurélien Trimouille ,Christel Thauvin-Robinet ,James Liu ,Ange-Line Bruel ,Hoda Tomoum ,Mennatallah O Shata ,Mais O Hashem ,Mehran Beiraghi Toosi ,Ehsan Ghayoor Karimiani ,Gözde Yeşil ,Lokesh Lingappa ,Debangana Baruah ,Farnoosh Ebrahimzadeh ,Julien Van-Gils ,Laurence Faivre ,Mina Zamani ,Hamid Galehdari ,Saeid Sadeghian ,Gholamreza Shariati ,Rahema Mohammad ,Jasper van der Smagt ,Alya Qari ,John B Vincent ,A Micheil Innes ,Ali Dursun ,R Köksal Özgül ,Halil Tuna Akar ,Kaya Bilguvar ,Cyril Mignot ,Boris Keren ,Claudia Raveli ,Lydie Burglen ,Alexandra Afenjar ,Laura Donker Kaat ,Marjon van Slegtenhorst ,Fowzan Alkuraya ,Henry Houlden ,Sergio Padilla-Lopez ,Reza Maroofian ,Michael Sacher ,Michael C Kruer

Sequential model for predicting patient adherence in subcutaneous immunotherapy for allergic rhinitis

用于预测过敏性鼻炎皮下免疫疗法患者依从性的序贯模型

Li, Yin; Xiong, Yu; Fan, Wenxin; Wang, Kai; Yu, Qingqing; Si, Liping; van der Smagt, Patrick; Tang, Jun; Chen, Nutan

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome

活性依赖性神经保护蛋白 (ADNP) 的剪接受体位点突变导致其功能丧失,从而引起赫尔斯莫特尔-范德阿综合征。

D'Incal, Claudio Peter; Annear, Dale John; Elinck, Ellen; van der Smagt, Jasper J; Alders, Mariëlle; Dingemans, Alexander J M; Mateiu, Ligia; de Vries, Bert B A; Vanden Berghe, Wim; Kooy, R Frank

CT-optimal touch and chronic pain experience in Parkinson's Disease; An intervention study

CT 最佳触觉与帕金森病慢性疼痛体验:一项干预研究

Meijer, Larissa L; Ruis, Carla; Schielen, Zoë A; Dijkerman, H Chris; van der Smagt, Maarten J

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

牵张激活离子通道TMEM63B与发育性和癫痫性脑病以及进行性神经退行性疾病相关。

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J V; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo

De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

新发 PHF5A 变异与颅面畸形、发育迟缓和尿道下裂有关

Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke-Mien F Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, G

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

变异位点是导致致心律失常性心肌病患者的新型风险因素,该病由桥粒蛋白(DSP)截断变异引起

Hoorntje, Edgar T; Burns, Charlotte; Marsili, Luisa; Corden, Ben; Parikh, Victoria N; Te Meerman, Gerard J; Gray, Belinda; Adiyaman, Ahmet; Bagnall, Richard D; Barge-Schaapveld, Daniela Q C M; van den Berg, Maarten P; Bootsma, Marianne; Bosman, Laurens P; Correnti, Gemma; Duflou, Johan; Eppinga, Ruben N; Fatkin, Diane; Fietz, Michael; Haan, Eric; Jongbloed, Jan D H; Hauer, Arnaud D; Lam, Lien; van Lint, Freyja H M; Lota, Amrit; Marcelis, Carlo; McCarthy, Hugh J; van Mil, Anneke M; Oldenburg, Rogier A; Pachter, Nicholas; Planken, R Nils; Reuter, Chloe; Semsarian, Christopher; van der Smagt, Jasper J; Thompson, Tina; Vohra, Jitendra; Volders, Paul G A; van Waning, Jaap I; Whiffin, Nicola; van den Wijngaard, Arthur; Amin, Ahmad S; Wilde, Arthur A M; van Woerden, Gijs; Yeates, Laura; Zentner, Dominica; Ashley, Euan A; Wheeler, Matthew T; Ware, James S; van Tintelen, J Peter; Ingles, Jodie

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

对KCNH2基因中可能致病的荷兰创始人变异进行重新分类;降低外显率的意义

Jaël S Copier ,Marianne Bootsma ,Chai A Ng ,Arthur A M Wilde ,Robin A Bertels ,Hennie Bikker ,Imke Christiaans ,Saskia N van der Crabben ,Janna A Hol ,Tamara T Koopmann ,Jeroen Knijnenburg ,Aafke A J Lommerse ,Jasper J van der Smagt ,Connie R Bezzina ,Jamie I Vandenberg ,Arie O Verkerk ,Daniela Q C M Barge-Schaapveld ,Elisabeth M Lodder