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

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration

C19orf44基因的双等位基因功能缺失变异会导致视网膜退化

Hussain, Hafiz Muhammad Jafar; Meng, Wang; Li, Yumei; Firasat, Sabika; Pennesi, Mark E; Gorin, Michael B; Guan, Bin; Clark, Rebecca Lynn; Fale-Olsen, Emma; Al Rawi, Ranya; Agather, Aime; Huryn, Laryssa A; Yang, Paul; Matynia, Anna; Chen, Rui

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies

UBAP1L基因双等位基因功能丧失变异与非综合征性视网膜营养不良

Ullah, Ehsan; Lin, Siying; Lu, Jiaxiong; Bender, Chelsea; Webster, Andrew R; Malka, Samantha; Madhusudhan, Savita; Rees, Emma; Williams, Denise; Agather, Aime R; Cukras, Catherine A; Hufnagel, Robert B; Chen, Rui; Huryn, Laryssa A; Arno, Gavin; Guan, Bin

Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans

色彩眼光:非裔美国人遗传性眼病的纳入与特征分析

Owete, Agnes C; Ionin, Raisa; Huryn, Laryssa A; Cukras, Catherine A; Blain, Delphine; Agather, Aime R; Hufnagel, Robert B; Brooks, Brian P; Nwanyanwu, Kristen; Zein, Wadih M

OUTER RETINAL MICROCAVITATIONS IN RETINITIS PIGMENTOSA : A Novel Optical Coherence Tomography Finding Common in RP1 -Related Retinopathy

视网膜色素变性中的外层视网膜微空洞:RP1相关视网膜病变中常见的新型光学相干断层扫描发现

Dimopoulos, Ioannis S; Huryn, Laryssa A; Hufnagel, Robert B; Ullah, Ehsan; Agather, Aime R; Blain, Delphine; Brooks, Brian P; Cukras, Catherine A; Zein, Wadih M

Religion, politics and COVID-19 risk perception among urban residents in Malawi

马拉维城市居民的宗教、政治和新冠肺炎风险认知

Chilanga, Emmanuel; Dzimbiri, Mastano; Mwanjawala, Patrick; Keller, Amanda; Mbeya, Ruth Agather