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Journal of Clinical Neuromuscular Disease|May 21, 2021
Glycogen Debrancher Enzyme Deficiency MyopathyMenachem Sadeh, Keren Yosovich, Ron DabbyJournal of the Neurological Sciences|December 3, 2023
Riboflavin-responsive lipid-storage myopathy in elderly patientsMenachem Sadeh, Amir Dory, Dorit Lev, et al.Journal of the Neurological Sciences|March 29, 2011
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosumLubov Blumkin, Tally Lerman-Sagie, Dorit Lev, et al.Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|December 30, 2015
Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A geneRon Dabby, Menachem Sadeh, Yelena Broitman, et al.European Journal of Medical Genetics|November 6, 2019
Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 geneMichal Gafner, Marina Michelson, Keren Yosovich, et al.JIMD Reports|September 20, 2013
Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic VariabilityLubov Blumkin, Esther Leshinsky-Silver, Ayelet Zerem, et al.Clinical Medicine Insights. Pediatrics|May 4, 2026
Severe Recurrent Polyhydramnios as a Prenatal Signal of MAGED2-Related Bartter Syndrome: A Clinical PerspectiveOffra Engel, Hagit Eisenberg, Julia Barda, et al.The Journal of Steroid Biochemistry and Molecular Biology|October 5, 2020
Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 geneAaron Hanukoglu, Rosa Vargas-Poussou, Zohar Landau, et al.Frontiers in Molecular Neuroscience|October 16, 2018
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP SynthesisHanna Wimberg, Dorit Lev, Keren Yosovich, et al.Clinical Genetics|February 14, 2024
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 geneMarina Michelson, Keren Yosovich, Sarit Bahar, et al.Pageof 4