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Loss-of-function variants in DUSP1 encoding dual specificity phosphatase 1 cause palmoplantar keratoderma 编码双特异性磷酸酶1的DUSP1基因功能缺失变异导致掌跖角化病 Malovitski, Kiril; Feller, Yarden; Giladi, Moshe; Janagond, Ajit B.; Shivaraj, Namratha; Kadakol, Gurushantappa S.; Khair, Lubna; Assaf, Sari; Mohamad, Janan; Ishtewy, Rawaa; Ildardashty, Alexander; Samuelov, Liat; Sarig, Ofer; Inamadar, Arun C.; Sprecher, Eli 分享 收藏
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HMCN1 variants aggravate epidermolysis bullosa simplex phenotype HMCN1变体加重单纯性大疱性表皮松解症表型 Bergson, Shir; Sarig, Ofer; Giladi, Moshe; Mohamad, Janan; Mogezel-Salem, Mariana; Smorodinsky-Atias, Karina; Sade, Ofir; Manori, Bar; Assaf, Sari; Malovitski, Kiril; Feller, Yarden; Pavlovsky, Mor; Hainzl, Stefan; Kocher, Thomas; Hummel, Julia I.; Eretz Kdosha, Noy; Khair, Lubna Gazi; Zauner, Roland; Pinon Hofbauer, Josefina; Shalom-Feuerstein, Ruby; Wally, Verena; Koller, Ulrich; Samuelov, Liat; Ashery, Uri; Sprecher, Eli 分享 收藏
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Revealing the tumor suppressive sequence within KL1 domain of the hormone Klotho Abboud, Marana; Merenbakh-Lamin, Keren; Volkov, Hadas; Ben-Neriah, Shira; Ligumsky, Hagai; Bronfeld, Sarai; Keren-Khadmy, Noa; Giladi, Moshe; Shomron, Noam; Wolf, Ido; Rubinek, Tami 分享 收藏
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Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy Malovitski, Kiril; Meijers, Odile; Cohen-Barak, Eran; Bergman, James; Adir, Noam; Giladi, Moshe; Shalev, Stavit; Sarig, Ofer; Schwartz, Janice; Evans, Holly; Sprecher, Eli; Samuelov, Liat 分享 收藏
Varicocoele in adolescence and testicular cancer in young adulthood Verhovsky, Guy; Giladi, Moshe; Tzur, Dorit; Afek, Arnon; Keinan-Boker, Lital; Derazne, Estela; Kaminsky, Dan; Hoffman, Azik; Erlich, Tomer; Neuman, Tzahi 分享 收藏