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Nutrients|October 23, 2021
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase DeficiencyOrna Staretz-Chacham, Ben Pode-Shakked, Eyal Kristal, et al.
Pediatric Pulmonology|June 19, 2025
Respiratory Manifestations in Pediatric Patients With Interleukin 6 Receptor DeficiencyNoga Arwas, Eyal Kristal, Inbal Golan-Tripto, et al.
Infectious Diseases (London, England)|September 13, 2017
Group A streptococcal brain abscess in children: two case reports and a review of the literatureGuy Hazan, Eyal Kristal, Michael Gideon, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndromeNoam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, et al.
Clinical Genetics|July 4, 2020
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathyOdeya David, Marina Eskin-Schwartz, Galina Ling, et al.
Clinical Genetics|October 10, 2023
CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan JewsMarina Eskin-Schwartz, Vadim Dolgin, Elena Didkovsky, et al.
Pediatrics|May 18, 2026
PET/CT as a Diagnostic Tool in Pediatric Fever of Unknown Origin: A Multicenter StudyNeta Berlak, Hanna Bernstine, Lydia Christodoulou, et al.
Journal of Inherited Metabolic Disease|July 23, 2024
The natural history of dihydrolipoamide dehydrogenase deficiency in IsraelBen Pode-Shakked, Yuval E Landau, Nava Shaul Lotan, et al.
Orphanet Journal of Rare Diseases|September 9, 2021
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in IsraelEyal Kristal, Ben Pode-Shakked, Guy Hazan, et al.
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