Concepedia

Reza Maroofian

RM

Statistics

Publications

1

Citations

64

H-Index

1

Active since

2020

Affiliations

Netherlands Institute for Neuroscience(Current)

Reza Maroofian is an author at Netherlands Institute for Neuroscience specializing in gene expression, neurodevelopmental genetics, and rna processing in neurons.

ORCID

Publications per year

2020–2020

1

Publications

1

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 64 citations · Full text

Life Sciences, Genetics, Neuroscience +17

1–1 of 1