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BBA Advances|February 9, 2026
Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorderIsra Sadiya, Irina Nekrasova, Meirav Avital-Shacham, et al.The Journal of Clinical Investigation|June 7, 2014
Testicular differentiation factor SF-1 is required for human spleen developmentDavid Zangen, Yotam Kaufman, Ehud Banne, et al.EMBO Molecular Medicine|July 16, 2021
Modeling genetic epileptic encephalopathies using brain organoidsDaniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, et al.Cells|April 30, 2021
Neurological Disorders Associated with WWOX Germline Mutations-A Comprehensive OverviewEhud Banne, Baraa Abudiab, Sara Abu-Swai, et al.JIMD Reports|August 5, 2015
Transaldolase Deficiency: A New Case Expands the Phenotypic SpectrumEhud Banne, Vardiella Meiner, Avraham Shaag, et al.Obstetrics and Gynecology|November 7, 2018
Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic AnomaliesLena Sagi-Dain, Idit Maya, Adi Reches, 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.Nature Communications|August 8, 2019
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndromeAbigail U Carbonell, Chang Hoon Cho, Jaafar O Tindi, et al.Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.Journal of Inherited Metabolic Disease|November 15, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disordersOrna Staretz-Chacham, Suha Daas, Igor Ulanovsky, et al.Pageof 3