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

Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q

由双突变 R217Q/R402Q 引起的重组人酪氨酸酶不稳定

Toay, Sarah; Sheri, Narin; MacDonald, Ian; Sergeev, Yuri V

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

Inherited Retinal Diseases with High Myopia: A Review

伴有高度近视的遗传性视网膜疾病:综述

Liu, Cyndy; Sheri, Narin; Benson, Matthew D

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

eSkip-Finder: a machine learning-based web application and database to identify the optimal sequences of antisense oligonucleotides for exon skipping

eSkip-Finder:一个基于机器学习的Web应用程序和数据库,用于识别外显子跳跃反义寡核苷酸的最佳序列

Chiba, Shuntaro; Lim, Kenji Rowel Q; Sheri, Narin; Anwar, Saeed; Erkut, Esra; Shah, Md Nur Ahad; Aslesh, Tejal; Woo, Stanley; Sheikh, Omar; Maruyama, Rika; Takano, Hiroaki; Kunitake, Katsuhiko; Duddy, William; Okuno, Yasushi; Aoki, Yoshitsugu; Yokota, Toshifumi