Ofir T. Betsalel

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu et al. · Journal of Medical Genetics · 2013 · 165 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

Efraim H. Rosenberg, Cristina Martínez Muñoz, Ofir T. Betsalel et al. · Human Mutation · 2007 · 59 citations

Life Sciences, Genetics, Molecular Genetics +13

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency

Joseph Ndika, Kathreen Johnston, James Barkovich et al. · Molecular Genetics and Metabolism · 2012 · 41 citations

Life Sciences, Pharmacology, Pediatric Therapeutics +10

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Ofir T. Betsalel, Ana Pop, Efraim H. Rosenberg et al. · Molecular Genetics and Metabolism · 2012 · 36 citations

Life Sciences, Genetics, Molecular Genetics +14

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

Ofir T. Betsalel, Jiddeke M. van de Kamp, Cristina Martínez-Muñoz et al. · Neurogenetics · 2008 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16