Resultados da pesquisa - Tal, Galit

EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans Por Horibata, Yasuhiro, Elpeleg, Orly, Eran, Ayelet, Hirabayashi, Yoshio, Savitzki, David, Tal, Galit, Mandel, Hanna, Sugimoto, Hiroyuki

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Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease Por Bar-Yoseph, Ronen, Tal, Galit, Dumin, Elena, Hanna, Moneera, Mainzer, Gur, Zucker-Toledano, Merav, Shallufi, George, Jahshan, Mira, Mandel, Hanna, Bentur, Lea

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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes Por Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit

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Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine Por Kurolap, Alina, Armbruster, Anja, Hershkovitz, Tova, Hauf, Katharina, Mory, Adi, Paperna, Tamar, Hannappel, Ewald, Tal, Galit, Nijem, Yusif, Sella, Ella, Mahajnah, Muhammad, Ilivitzki, Anat, Hershkovitz, Dov, Ekhilevitch, Nina, Mandel, Hanna, Eulenburg, Volker, Baris, Hagit N.

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision Por Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

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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

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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

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Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network Por Hirano, Michio, Carelli, Valerio, De Giorgio, Roberto, Pironi, Loris, Accarino, Anna, Cenacchi, Giovanna, D’Alessandro, Roberto, Filosto, Massimiliano, Martí, Ramon, Nonino, Francesco, Pinna, Antonio Daniele, Baldin, Elisa, Bax, Bridget Elizabeth, Bolletta, Alessio, Bolletta, Riccardo, Boschetti, Elisa, Cescon, Matteo, D’Angelo, Roberto, Dotti, Maria Teresa, Giordano, Carla, Gramegna, Laura Ludovica, Levene, Michelle, Lodi, Raffaele, Mandel, Hanna, Morelli, Maria Cristina, Musumeci, Olimpia, Pugliese, Alessia, Scarpelli, Mauro, Siniscalchi, Antonio, Spinazzola, Antonella, Tal, Galit, Torres-Torronteras, Javier, Vignatelli, Luca, Zaidman, Irina, Zoller, Heinz, Rinaldi, Rita, Zeviani, Massimo

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