Maria Johnson

Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy

A. Hamosh, J. Hoover-Fong, Natalie Beck, 2016, American journal of medical genetics. Part A.

Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.

G. Raymond, T. Henry, D. Nascene, 2017, Pediatric neurology.

A diversified approach for PKU treatment: routine screening yields high incidence of psychiatric distress in phenylketonuria clinics.

H. Coon, A. Hamosh, B. Burton, 2013, Molecular genetics and metabolism.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

A. Moser, F. Villarroya, N. Bargalló, 2019, Neurotherapeutics.