Yoseph Horovitz

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

Ronen Spiegel, Ann Saada, Jonatan Halvardson et al. · European Journal of Human Genetics · 2013 · 83 citations · Full text

Mitochondrial Myopathy, Deleterious Mutation, Mendelian Disorder +7

<i>SLC25A19</i> mutation as a cause of neuropathy and bilateral striatal necrosis

Ronen Spiegel, Avraham Shaag, Simon Edvardson et al. · Annals of Neurology · 2009 · 81 citations

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová et al. · Journal of Inherited Metabolic Disease · 2014 · 68 citations

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in<i>IER3IP1</i>: insights into the natural history of a rare disorder

Stavit A. Shalev, Yardena Tenenbaum‐Rakover, Yoseph Horovitz et al. · Pediatric Diabetes · 2013 · 52 citations · Full text

Expanding the clinical spectrum of SLC29A3 gene defects

Ronen Spiegel, Simon T. Cliffe, Michael F. Buckley et al. · European Journal of Medical Genetics · 2010 · 45 citations

Genetic Disorder, Genetics, Disease Gene Identification +3