Keren Yosovich

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability

Lubov Blumkin, Esther Leshinsky‐Silver, Ayelet Zerem et al. · JIMD Reports · 2013 · 46 citations

Life Sciences, Genetics, Neurology +17

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Richard H. van Jaarsveld, Jack Reilly, Marie-Claire Cornips et al. · Genetics in Medicine · 2022 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

Lubov Blumkin, Tally Lerman‐Sagie, Dorit Lev et al. · Journal of the Neurological Sciences · 2011 · 35 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical phenotypes of infantile onset CACNA1A-related disorder

Tamar Gur-Hartman, Oren Berkowitz, Keren Yosovich et al. · European Journal of Paediatric Neurology · 2020 · 29 citations · Full text

Medicine, Genetics, Molecular Genetics +10