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

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report

非综合征型MFSD8相关疾病的纯黄斑表型:病例报告

Ghiam, Sean; Zukerman, Ryan; Brzozowski, Morgan; Alabek, Michelle; Hagan, Richard; Beryozkin, Avigail; Sahel, José-Alain; Rosin, Boris

Developing a pediatric ophthalmology telemedicine program in the COVID-19 crisis

在新冠疫情危机期间发展儿科眼科远程医疗项目

Kapoor, Saloni; Eldib, Amgad; Hiasat, Jamila; Scanga, Hannah; Tomasello, Jennifer; Alabek, Michelle; Ament, Kellie; Arner, Debbi; Benson, Ashley; Berret, Kristine; Blaha, Bianca; Brinza, Melissa; Caterino, Roxanne; Chauhan, Baresh; Churchfield, Whitney; Fulwylie, Christina; Gruszewski, Jessi; Hrinak, Denise; Johnston, Lori; Meyer, Cheryl; Nanda, Kaajal; Newton, Teresa; Pomycala, Becci; Runkel, Lauren; Sanchez, Katherine; Skellett, Sarah; Steigerwald, Jess; Mitchell, Ellen; Pihlblad, Matthew; Luchansky, Craig; Keim, Erin; Yu, Jenny; Quinn, Patrick; Mittal, Anshul; Pitetti, Raymond; Patil-Chhablani, Preeti; Liasis, Alkiviadis; Nischal, Ken K

BRCA1/2 mutations and triple negative breast cancers

BRCA1/2 基因突变与三阴性乳腺癌

Peshkin, Beth N; Alabek, Michelle L; Isaacs, Claudine