Marwan Nashabat

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors

Juan Darío Ortigoza‐Escobar, Majid Alfadhel, Marta Molero-Luís et al. · Annals of Neurology · 2017 · 69 citations

Life Sciences, Genetics, Neurology +17

Targeted <i>SLC19A3</i> gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Majid Alfadhel, Muhammad Umair, Bader Almuzzaini et al. · Annals of Clinical and Translational Neurology · 2019 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

Fuad Al Mutairi, Majid Alfadhel, Marwan Nashabat et al. · Pediatric Neurology · 2017 · 53 citations

Life Sciences, Cardiology, Genetics +9

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

Majid Alfadhel, Marwan Nashabat, Hanan Al Qahtani et al. · Human Genetics · 2016 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Ashfaque Ahmed, Meng Wang, Gaber Bergant et al. · Human Genetics · 2020 · 29 citations

Medicine, Genetics, Neurology +14