Nathalie Delphin
Inserm(FR)Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, HIV Research and Treatment, HIV/AIDS drug development and treatment, HIV/AIDS Research and Interventions
Most-Cited Works
- → Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations(2012)214 cited
- → Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy(2012)145 cited
- → Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling(2006)129 cited
- → TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy(2009)101 cited
- → Phylogenetic Analyses Indicate an Atypical Nurse-to-Patient Transmission of Human Immunodeficiency Virus Type 1(2000)68 cited
- Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.(2009)
- → Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?(2011)38 cited
- → TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane(2013)32 cited
- → Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II(2007)30 cited
- → The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations inBEST1Gene(2011)28 cited