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Clinical Medicine Insights. Endocrinology and Diabetes|June 10, 2024
Autosomal Dominant, Long-Standing Dysglycemia in 2 Families with Unique Phenotypic FeaturesAaron Hanukoglu, Ehud Banne, Dorit Lev, et al.
The Journal of Clinical Endocrinology and Metabolism|March 12, 2024
Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 DeficiencyAmnon Zung, Niklas Sonntag, Ulrich Schweizer, 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.
Journal of Medical Genetics|July 2, 2013
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutationEhud Banne, Osama Atawneh, Marco Henneke, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 21, 2020
De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1AEhud Banne, Tzipora Falik-Zaccai, Esther Brielle, et al.
Pediatric Research|January 11, 2018
Microarray analysis in pregnancies with isolated unilateral kidney agenesisLena Sagi-Dain, Idit Maya, Amir Peleg, et al.
Frontiers in Endocrinology|November 29, 2023
Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter studyRachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, et al.
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