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

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

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families.

纯合性作图和靶向 Sanger 测序在伊朗视网膜变性家族中发现了三个新的 CRB1(Crumbs 同源物 1)突变

Ghofrani Mohammad, Yahyaei Mahin, Brunner Han G, Cremers Frans PM, Movasat Morteza, Imran Khan Muhammad, Keramatipour Mohammad

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

基于反义寡核苷酸(AON)的疗法治疗由CEP290基因常见突变引起的Leber先天性黑蒙

Collin, Rob Wj; den Hollander, Anneke I; van der Velde-Visser, Saskia D; Bennicelli, Jeannette; Bennett, Jean; Cremers, Frans Pm

Latent TGF-β–binding protein 4 modifies muscular dystrophy in mice

潜伏性TGF-β结合蛋白4可改善小鼠的肌肉萎缩症。

Wang, Fei; Okamoto, Yasuo; Inoki, Isao; Yoshioka, Kazuaki; Du, Wa; Qi, Xun; Takuwa, Noriko; Gonda, Koichi; Yamamoto, Yasuhiko; Ohkawa, Ryunosuke; Nishiuchi, Takumi; Sugimoto, Naotoshi; Yatomi, Yutaka; Mitsumori, Kunitoshi; Asano, Masahide; Kinoshita, Makoto; Takuwa, Yoh; Hiby, Susan E; Apps, Richard; Sharkey, Andrew M; Farrell, Lydia E; Gardner, Lucy; Mulder, Arend; Claas, Frans H; Walker, James J; Redman, Christopher W; Morgan, Linda; Tower, Clare; Regan, Lesley; Moore, Gudrun E; Carrington, Mary; Moffett, Ashley; den Hollander, Anneke I; Black, Aaron; Bennett, Jean; Cremers, Frans PM; Kasprowicz, Victoria; Ward, Scott M; Turner, Alison; Grammatikos, Alexandros; Nolan, Brian E; Lewis-Ximenez, Lia; Sharp, Charles; Woodruff, Jenny; Fleming, Vicki M; Sims, Stuart; Walker, Bruce D; Sewell, Andrew K; Lauer, Georg M; Klenerman, Paul; Ebermann, Inga; Phillips, Jennifer B; Liebau, Max C; Koenekoop, Robert K; Schermer, Bernhard; Lopez, Irma; Schäfer, Ellen; Roux, Anne-Francoise; Dafinger, Claudia; Bernd, Antje; Zrenner, Eberhart; Claustres, Mireille; Blanco, Bernardo; Nürnberg, Gudrun; Nürnberg, Peter; Ruland, Rebecca; Westerfield, Monte; Benzing, Thomas; Bolz, Hanno J; Rached, Marie-Therese; Kode, Aruna; Silva, Barbara C; Jung, Dae Young; Gray, Susan; Ong, Helena; Paik, Ji-Hye; DePinho, Ronald A; Kim, Jason K; Karsenty, Gerard; Kousteni, Stavroula; Heydemann, Ahlke; Ceco, Ermelinda; Lim, Jackie E; Hadhazy, Michele; Ryder, Pearl; Moran, Jennifer L; Beier, David R; Palmer, Abraham A; McNally, Elizabeth M