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

Characterizing a Unique Retinal Phenotype in INTS11-Associated Neurodevelopmental Disorder

INTS11相关神经发育障碍中一种独特的视网膜表型特征

Lin, Siying; Tan, Wendy D; Robson, Anthony G; Arno, Gavin; Gissen, Paul; Schiff, Elena R; McMillan, Brian; Odom, J Vernon; Mahroo, Omar A; Webster, Andrew R; Leys, Monique

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy

对一大群患有BBS1视网膜病变的患者进行遗传和表型特征分析

Romo-Aguas, Juan C; de Guimarāes, Thales A C; Kalitzeos, Angelos; Alfaro-Goldaracena, Maria Del Pilar; Baker, Rebecca A; Robson, Anthony G; Fujinami, Kaoru; Fujinami-Yokokawa, Yu; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel

ISCEV extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli

ISCEV扩展方案,用于使用全视野无声替代刺激的光感受器导向ERG

Kremers, Jan; Barboni, Mirella T S; Zele, Andrew J; Feigl, Beatrix; McAnany, J Jason; Robson, Anthony G; Nagy, Balázs Vince; Parry, Neil; Mahroo, Omar A; Huchzermeyer, Cord

Correction: ISCEV extended protocol for the photoreceptor directed ERG using full-field silent substitution stimuli

更正:ISCEV 扩展方案,用于使用全视野无声替代刺激的光感受器导向 ERG

Kremers, Jan; Barboni, Mirella T S; Zele, Andrew J; Feigl, Beatrix; McAnany, J Jason; Robson, Anthony G; Nagy, Balázs Vince; Parry, Neil; Mahroo, Omar A; Huchzermeyer, Cord

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness

与一种罕见夜盲症相关的特定GUCY2D等位基因的临床和生化特征

Ba-Abbad, Rola; Peshenko, Igor V; Daich Varela, Malena; Lin, Siying; Arno, Gavin; Mahroo, Omar A; Egan, Catherine; Robson, Anthony G; Olshevskaya, Elena V; Dizhoor, Alexander M; Webster, Andrew R

Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy

GUCA1A相关视网膜病变患者队列的临床、遗传、影像学和电生理学发现

Allon, Gilad; Lin, Siying; Robson, Anthony G; Arno, Gavin; Neveu, Magella M; Hysi, Pirro G; Michaelides, Michel; Webster, Andrew R; Mahroo, Omar A

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials

RHO相关性视网膜色素变性:遗传学、表型、自然史、功能分析和动物模型——为临床试验做准备

Daich Varela, Malena; Romo-Aguas, Juan Carlos; Guarascio, Rosellina; Ziaka, Kalliopi; Aguila, Monica; Hau, Kwan-Leong; Li, Yumei; Chen, Rui; Kalitzeos, Angelos; Robson, Anthony G; Baker, Rebecca A; Mahroo, Omar A; Webster, Andrew R; Chan, Henry; Lubock, Nathan B; Albert, Matthew L; Cheetham, Michael E; Michaelides, Michel

Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome

MYO7A相关Usher综合征的详细临床、眼科和遗传特征

Romo-Aguas, Juan C; de Guimarães, Thales A C; Kalitzeos, Angelos; Aychoua, Nancy; Tsika, Chrysanthi; Robson, Anthony G; Fujinami-Yokokawa, Yu; Fujinami, Kaoru; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel

A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry

针对黑人非洲裔人群中常见的p.(Pro836Thr)变异体引起的CRB1视网膜病变的表型研究

Wong, Wendy M; Robson, Anthony G; Baker, Rebecca A; Arno, Gavin; Van Aerschot, Joseph; Lin, Siying; Moosajee, Mariya; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick