Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q von DEKEL-NAFTALI, Michal, AVIRAM-GOLDRING, Ayala, SCHIFF, Eyal, RIENSTEIN, Shlomit, LITMANOVITCH, Talia, SHAMASH, Jana, REZNIK-WOLF, Haike, LAEVSKY, Ilana, AMIT, Michal, ITSKOVITZ-ELDOR, Joseph, YUNG, Yuval, HOURVITZ, Ariel

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Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features von Dori, Amir, Arad, Michael, Wasserstrum, Yishay, Pollak, Arthur, Nikitin, Vera, Ben‐David, Merav, Shamash, Jana, Nahum, Ayelet Hashachar, Shavit‐Stein, Efrat, Domachevsky, Liran, Kuperstein, Rafael, Dominissini, Dan, Shelestovich, Natalia, Sadeh, Menachem, Pras, Elon, Greenbaum, Lior

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Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population von Greenbaum, Lior, Ben‐David, Merav, Nikitin, Vera, Gera, Orna, Barel, Ortal, Hersalis‐Eldar, Adi, Shamash, Jana, Shimshoviz, Noam, Reznik‐Wolf, Haike, Shohat, Mordechai, Dominissini, Dan, Pras, Elon, Dori, Amir

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A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum von Regev, Miriam, Dori, Amir, Altarescu, Gheona, Barel, Ortal, Basel-Salmon, Lina, Greenbaum, Lior, Fellner, Avi, Pras, Elon, Shamash, Jana, Meiner, Vardiela, Bazak, Lily, Goldberg, Yael

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Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity von Chorin, Odelia, Chowers, Guy, Agbariah, Rawan, Karklinsky, Shani, Barel, Ortal, Bar-Joseph, Ifat, Reznik-Wolf, Haike, Shamash, Jana, Pode-Shakked, Ben, Jacobson, Jeffrey M., Huna-Baron, Ruth, Redler, Yael, Tirosh, Irit, Vivante, Asaf, Raas-Rothschild, Annick

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Combined immunodeficiency in a patient with mosaic monosomy 21 von Rechavi, Erez, Levy-Mendelovich, Sarina, Stauber, Tali, Shamash, Jana, Reinstein, Shlomit, Vernitsky, Helly, Adam, Dganit, Simon, Amos J., Lev, Atar, Raas-Rothschild, Annick, Somech, Raz

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Chromosomal integrity of human preimplantation embryos at different days post fertilization von Dekel-Naftali, Michal, Aviram-Goldring, Ayala, Litmanovitch, Talia, Shamash, Jana, Yonath, Hagith, Hourvitz, Ariel, Yung, Yuval, Brengauz, Masha, Schiff, Eyal, Rienstein, Shlomit

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Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier’s embryos- preliminary observations of two robertsonian translocation carrier families... von Shamash, Jana, Rienstein, Shlomit, Wolf-Reznik, Haike, Pras, Elon, Dekel, Michal, Litmanovitch, Talia, Brengauz, Masha, Goldman, Boleslav, Yonath, Hagith, Dor, Jehoshua, Levron, Jacob, Aviram-Goldring, Ayala

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