Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

por DeBarber, Andrea E., Kalfon, Limor, Fedida, Ayalla, Fleisher Sheffer, Vered, Ben Haroush, Shani, Chasnyk, Natalia, Shuster Biton, Efrat, Mandel, Hanna, Jeffries, Krystal, Shinwell, Eric S., Falik-Zaccai, Tzipora C.
Publicado no J Lipid Res (2018)

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

por Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Publicado no EMBO Mol Med (2017)

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

por Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly
Publicado no EMBO Mol Med (2017)