Výsledky vyhledávání - Rabinowitz, Tom

Genome-wide noninvasive prenatal diagnosis of monogenic disorders: Current and future trends Autor Rabinowitz, Tom, Shomron, Noam

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Improved noninvasive fetal variant calling using standardized benchmarking approaches Autor Rabinowitz, Tom, Deri-Rozov, Shira, Shomron, Noam

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Bayesian-based noninvasive prenatal diagnosis of single-gene disorders Autor Rabinowitz, Tom, Polsky, Avital, Golan, David, Danilevsky, Artem, Shapira, Guy, Raff, Chen, Basel-Salmon, Lina, Matar, Reut Tomashov, Shomron, Noam

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A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews Autor Tatour, Yasmin, Tamaiev, Jonathan, Shamaly, Shamaly, Colombo, Roberto, Bril, Ephrat, Rabinowitz, Tom, Yaakobi, Alona, Mezer, Eedy, Leibu, Rina, Tiosano, Beatrice, Shomron, Noam, Chowers, Itay, Banin, Eyal, Sharon, Dror, Ben-Yosef, Tamar

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Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A Autor Mohamad, Janan, Sarig, Ofer, Godsel, Lisa M., Peled, Alon, Malchin, Natalia, Bochner, Ron, Vodo, Dan, Rabinowitz, Tom, Pavlovsky, Mor, Taiber, Shahar, Fried, Maya, Eskin-Schwartz, Marina, Assi, Siwar, Shomron, Noam, Uitto, Jouni, Koetsier, Jennifer L., Bergman, Reuven, Green, Kathleen J., Sprecher, Eli

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