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

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

全外显子组测序鉴定出双等位基因IDH3A变异是伴有假性眼裂的视网膜色素变性的病因

Pierrache, Laurence H M; Kimchi, Adva; Ratnapriya, Rinki; Roberts, Lisa; Astuti, Galuh D N; Obolensky, Alexey; Beryozkin, Avigail; Tjon-Fo-Sang, Martha J H; Schuil, Jose; Klaver, Caroline C W; Bongers, Ernie M H F; Haer-Wigman, Lonneke; Schalij, Nicoline; Breuning, Martijn H; Fischer, Gratia M; Banin, Eyal; Ramesar, Raj S; Swaroop, Anand; van den Born, L Ingeborgh; Sharon, Dror; Cremers, Frans P M

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

对 266 名荷兰视力障碍患者进行诊断性外显子组测序

Haer-Wigman, Lonneke; van Zelst-Stams, Wendy Ag; Pfundt, Rolph; van den Born, L Ingeborgh; Klaver, Caroline Cw; Verheij, Joke Bgm; Hoyng, Carel B; Breuning, Martijn H; Boon, Camiel Jf; Kievit, Anneke J; Verhoeven, Virginie Jm; Pott, Jan Wr; Sallevelt, Suzanne Ceh; van Hagen, Johanna M; Plomp, Astrid S; Kroes, Hester Y; Lelieveld, Stefan H; Hehir-Kwa, Jayne Y; Castelein, Steven; Nelen, Marcel; Scheffer, Hans; Lugtenberg, Dorien; Cremers, Frans Pm; Hoefsloot, Lies; Yntema, Helger G

Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients

整个干扰素-γ受体1基因的缺失导致三名相关患者完全缺乏该基因。

de Vor, Inge C; van der Meulen, Pomme M; Bekker, Vincent; Verhard, Els M; Breuning, Martijn H; Harnisch, Esther; van Tol, Maarten J D; Wieringa, Jantien W; van de Vosse, Esther; Bredius, Robbert G M

LRP5 variants may contribute to ADPKD

LRP5 变异可能导致 ADPKD

Cnossen, Wybrich R; te Morsche, René H M; Hoischen, Alexander; Gilissen, Christian; Venselaar, Hanka; Mehdi, Soufi; Bergmann, Carsten; Losekoot, Monique; Breuning, Martijn H; Peters, Dorien J M; Veltman, Joris A; Drenth, Joost P H

Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry

遗传性癌症登记处改善了具有癌症遗传倾向患者的护理:来自荷兰林奇综合征登记处的贡献

Vasen, Hans F A; Velthuizen, Mary E; Kleibeuker, Jan H; Menko, Fred H; Nagengast, Fokke M; Cats, Annemieke; van der Meulen-de Jong, Andrea E; Breuning, Martijn H; Roukema, Anne J; van Leeuwen-Cornelisse, Inge; de Vos Tot Nederveen Cappel, Wouter H; Wijnen, Juul T

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

荷兰MODY分子遗传学检测应用十年回顾性研究

Weinreich, Stephanie S; Bosma, Astrid; Henneman, Lidewij; Rigter, Tessel; Spruijt, Carla M J; Grimbergen, Anneliese J E M A; Breuning, Martijn H; de Koning, Eelco J P; Losekoot, Monique; Cornel, Martina C

Impact of prenatal technologies on the sex ratio in India: an overview

产前技术对印度性别比例的影响:概述

Madan, Kamlesh; Breuning, Martijn H

Copy number variants in patients with short stature

矮小症患者的拷贝数变异

van Duyvenvoorde, Hermine A; Lui, Julian C; Kant, Sarina G; Oostdijk, Wilma; Gijsbers, Antoinet C J; Hoffer, Mariëtte J V; Karperien, Marcel; Walenkamp, Marie J E; Noordam, Cees; Voorhoeve, Paul G; Mericq, Verónica; Pereira, Alberto M; Claahsen-van de Grinten, Hedi L; van Gool, Sandy A; Breuning, Martijn H; Losekoot, Monique; Baron, Jeffrey; Ruivenkamp, Claudia A L; Wit, Jan M

MUTYH gene variants and breast cancer in a Dutch case–control study

荷兰一项病例对照研究探讨了MUTYH基因变异与乳腺癌之间的关系

Out, Astrid A; Wasielewski, Marijke; Huijts, Petra E A; van Minderhout, Ivonne J H M; Houwing-Duistermaat, Jeanine J; Tops, Carli M J; Nielsen, Maartje; Seynaeve, Caroline; Wijnen, Juul T; Breuning, Martijn H; van Asperen, Christi J; Schutte, Mieke; Hes, Frederik J; Devilee, Peter

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.

人类和斑马鱼的颅缝早闭和多发性骨骼畸形是由视黄酸局部降解缺陷引起的

Laue Kathrin, Pogoda Hans-Martin, Daniel Philip B, van Haeringen Arie, Alanay Yasemin, von Ameln Simon, Rachwalski Martin, Morgan Tim, Gray Mary J, Breuning Martijn H, Sawyer Gregory M, Sutherland-Smith Andrew J, Nikkels Peter G, Kubisch Christian, Bloch Wilhelm, Wollnik Bernd, Hammerschmidt Matthias, Robertson Stephen P