louise F porter
University of Liverpool
H-index: 14
Europe-United Kingdom
Top articles of louise F porter
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects | International Journal of Molecular Sciences | Adella Karam Clarisse Delvallée Alejandro Estrada-Cuzcano Véronique Geoffroy Jean-Baptiste Lamouche | 2023/5/13 |
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature … | Pierre‐yves Maillard Sarah Baer Élise Schaefer Béatrice Desnous Nathalie Villeneuve | 2022/10 | |
PERK/EIF2AK3 integrates endoplasmic reticulum stress-induced apoptosis, oxidative stress and autophagy responses in immortalised retinal pigment epithelial cells | Scientific reports | Neil Saptarshi Louise F Porter Luminita Paraoan | 2022/8/3 |
Epigenetic age acceleration is not associated with age-related macular degeneration | International Journal of Molecular Sciences | Neil Saptarshi Daniel Green Angela Cree Andrew Lotery Luminita Paraoan | 2021/12/15 |
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation | Frontiers in Genetics | Laura Mauring Louise Frances Porter Valerie Pelletier Axelle Riehm Anne-Sophie Leuvrey | 2020/8/21 |
Integrated microarray and RNAseq transcriptomic analysis of retinal pigment epithelium/choroid in age-related macular degeneration | Frontiers in Cell and Developmental Biology | Dhanach Dhirachaikulpanich Xin Li Louise F Porter Luminita Paraoan | 2020/8/21 |
