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Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues by Mor Angel, Yuval Kleinberg, Tanmoy Newaz, Victoria Li, Rinat Zaid, Keren Oved, Orly Dorot, Edward Pichinuk, Emily Avitan-Hersh, Ann Saada, Karin Weiss, Vanina Zaremberg, Galit Tal, Einat Zalckvar
Published 2025-04-01Get full text
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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype by Adel Shalata, Ann Saada, Mohammed Mahroum, Yarin Hadid, Chaya Furman, Zaher Eldin Shalata, Robert J. Desnick, Avraham Lorber, Asaad Khoury, Adnan Higazi, Avraham Shaag, Varda Barash, Ronen Spiegel, Euvgeni Vlodavsky, Pierre Rustin, Shmuel Pietrokovski, Irena Manov, Dan Gieger, Galit Tal, Adi Salzberg, Hanna Mandel
Published 2025-02-01Get full text
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Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome by Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni
Published 2017-01-01Get full text
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