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Frontiers in Cell and Developmental Biology|December 29, 2023
Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domainAriella Weinberg-Shukron, Neil A Youngson, Anne C Ferguson-Smith, et al.American Journal of Medical Genetics. Part A|March 6, 2020
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasiaMaha Abdulhadi-Atwan, Tehila Klopstock, Muna Sharaf, et al.Pediatric Endocrinology Reviews : PER|August 12, 2020
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature ReviewEran Lavi, Mahmud Zighan, Abdulsalam Abu Libdeh, et al.Nature Communications|July 29, 2022
Balanced gene dosage control rather than parental origin underpins genomic imprintingAriella Weinberg-Shukron, Raz Ben-Yair, Nozomi Takahashi, et al.The Journal of Clinical Endocrinology and Metabolism|August 21, 2020
NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin SecretionAdi Auerbach, Amitay Cohen, Noa Ofek Shlomai, et al.Journal of Medical Genetics|June 14, 2015
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stressAriella Weinberg-Shukron, Abdulsalam Abu-Libdeh, Fouad Zhadeh, et al.The Journal of Clinical Investigation|October 2, 2015
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutationsDavid A Zeevi, Gheona Altarescu, Ariella Weinberg-Shukron, et al.Journal of Medical Genetics|April 16, 2015
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failureYardena Tenenbaum-Rakover, Ariella Weinberg-Shukron, Paul Renbaum, 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.Elife|March 21, 2022
Nucleoporin107 mediates female sexual differentiation via DsxTikva Shore, Tgst Levi, Rachel Kalifa, et al.Pageof 2