Emanuele G. Coci

Development of Novel Efficient SIN Vectors with Improved Safety Features for Wiskott–Aldrich Syndrome Stem Cell Based Gene Therapy

Inés Avedillo Díez, Daniela Zychlinski, Emanuele G. Coci et al. · Molecular Pharmaceutics · 2011 · 68 citations · Full text

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke et al. · Brain · 2020 · 59 citations · Full text

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in<i>PC</i>and analysis of the genotype–phenotype correlation

Emanuele G. Coci, Vytautas Gapsys, Natasha Shur et al. · Human Mutation · 2019 · 18 citations · Full text

Genetics, Genetic Epidemiology, Human Polymorphism +20

Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy

Emanuele G. Coci, Luca Codutti, Christian G. Fink et al. · Molecular and Cellular Probes · 2016 · 16 citations

Mendelian Disorder, Genetic Disorder, Genetics +3

The expanding clinical and genetic spectrum of <i>DYNC1H1</i>-related disorders

Birk Möller, Lena‐Luise Becker, Afshin Saffari et al. · Brain · 2024 · 14 citations · Full text