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Human Molecular Genetics|January 15, 2005
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish populationAvraham Shaag, Tom Walsh, Paul Renbaum, et al.Harefuah|March 9, 2026
[Resolving Genomic Mysteries with Long-read Sequencing]Omer Murik, David Zeevi, Tzvia Mann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 27, 2021
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testingDavid A Zeevi, Daniel Backenroth, Elinor Hakam-Spector, et al.Neurogenetics|May 29, 2020
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizuresReeval Segel, Adi Aran, Suleyman Gulsuner, et al.The Journal of Clinical Investigation|October 21, 2015
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesisAriella Weinberg-Shukron, Paul Renbaum, Rachel Kalifa, et al.Journal of Clinical Immunology|September 5, 2022
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish PopulationTal Freund, Sarah K Baxter, Tom Walsh, et al.Endocrine|May 7, 2020
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSDFloris Levy-Khademi, Sharon Zeligson, Eran Lavi, et al.Frontiers in Pharmacology|August 14, 2023
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from <i>PITRM1</i>-deficient patientsAlessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, et al.International Journal of Cancer|May 10, 2017
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53Suhair Lolas Hamameh, Paul Renbaum, Lara Kamal, et al.Genome Medicine|January 4, 2024
Using multi-scale genomics to associate poorly annotated genes with rare diseasesChristina Canavati, Dana Sherill-Rofe, Lara Kamal, et al.Pageof 8