Claire Marie Dhaenens

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre et al. · Journal of Medical Genetics · 2013 · 190 citations · Full text

Life Sciences, Genetics, Human Genetics +4

Unique noncoding variants upstream of <i>PRDM13</i> are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

Raquel Sofia Silva, Gavin Arno, Valentina Cipriani et al. · Human Mutation · 2019 · 28 citations

Life Sciences, Genetics, Molecular Genetics +17

Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

Béatrice Bocquet, Hicham El Alami Trebki, Anne‐Françoise Roux et al. · Ophthalmology Science · 2021 · 10 citations · Full text

Medicine, Ophthalmology, Pediatrics +17