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

A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

一项针对KDM5B相关疾病的基因型/表型研究表明,显性遗传的错义变异具有致病作用

Borroto, Maria Carla; Michaud, Coralie; Hudon, Chloé; Agrawal, Pankaj B; Agre, Katherine; Applegate, Carolyn D; Beggs, Alan H; Bjornsson, Hans T; Callewaert, Bert; Chen, Mei-Jan; Curry, Cynthia; Devinsky, Orrin; Dudding-Byth, Tracy; Fagan, Kelly; Finnila, Candice R; Gavrilova, Ralitza; Genetti, Casie A; Hiatt, Susan M; Hildebrandt, Friedhelm; Wojcik, Monica H; Kleefstra, Tjitske; Kolvenbach, Caroline M; Korf, Bruce R; Kruszka, Paul; Li, Hong; Litwin, Jessica; Marcadier, Julien; Platzer, Konrad; Blackburn, Patrick R; Reijnders, Margot R F; Reutter, Heiko; Schanze, Ina; Shieh, Joseph T; Stevens, Cathy A; Valivullah, Zaheer; van den Boogaard, Marie-José; Klee, Eric W; Campeau, Philippe M

AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype

AAV 介导的 CRB1 患者来源的视网膜类器官基因增强疗法可恢复组织学和转录视网膜表型

Nanda Boon, Xuefei Lu, Charlotte A Andriessen, Ioannis Moustakas, Thilo M Buck, Christian Freund, Christiaan H Arendzen, Stefan Böhringer, Hailiang Mei, Jan Wijnholds

Angiopoietin-like 4 governs diurnal lipoprotein lipase activity in brown adipose tissue

血管生成素样 4 调控棕色脂肪组织中的昼夜脂蛋白脂肪酶活性

Robin van Eenige, Wietse In Het Panhuis, Milena Schönke, Céline Jouffe, Thomas H Devilee, Ricky Siebeler, Trea C M Streefland, Hetty C M Sips, Amanda C M Pronk, Ruben H P Vorderman, Hailiang Mei, Jan Bert van Klinken, Michel van Weeghel, Nina H Uhlenhaut, Sander Kersten, Patrick C N Rensen, Sander K

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

两例新病例进一步扩展了 TOR1AIP1 相关核膜病的表型

Ivana Lessel, Mei-Jan Chen, Sabine Lüttgen, Florian Arndt, Sigrid Fuchs, Stefanie Meien, Holger Thiele, Julie R Jones, Brandon R Shaw, David K Crossman, Peter Nürnberg, Bruce R Korf, Christian Kubisch, Davor Lessel

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway

与心面皮肤综合征相关的YWHAZ变异体激活RAF-ERK通路

Popov, Ivan K; Hiatt, Susan M; Whalen, Sandra; Keren, Boris; Ruivenkamp, Claudia; van Haeringen, Arie; Chen, Mei-Jan; Cooper, Gregory M; Korf, Bruce R; Chang, Chenbei

Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study

I型神经纤维瘤病中的皮肤神经纤维瘤:一项定量自然史研究

Cannon, Ashley; Chen, Mei-Jan; Li, Peng; Boyd, Kevin P; Theos, Amy; Redden, David T; Korf, Bruce