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Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
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.
Afiliación
  • Falik-Zaccai TC; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel falikmd.genetics@gmail.com orly.avni@biu.ac.il.
  • Barsheshet Y; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Mandel H; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Segev M; Metabolic Disease Unit, Rambam Health Care Campus, Haifa, Israel.
  • Lorber A; Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Gelberg S; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Kalfon L; Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Ben Haroush S; Department of Pediatric Cardiology, Rambam Health Care Campus, Haifa, Israel.
  • Shalata A; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Gelernter-Yaniv L; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Chaim S; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Raviv Shay D; The Winter Genetic Institute, Bnei Zion Medical Center, Haifa, Israel.
  • Khayat M; Pediatric Cardiology Clinic, Bnei Zion Medical Center, Haifa, Israel.
  • Werbner M; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Levi I; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Shoval Y; The Genetic Institute, Ha'emek Medical Center, Afula, Israel.
  • Tal G; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Shalev S; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Reuveni E; Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.
  • Avitan-Hersh E; Metabolic Disease Unit, Rambam Health Care Campus, Haifa, Israel.
  • Vlodavsky E; Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Appl-Sarid L; Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Goldsher D; The Genetic Institute, Ha'emek Medical Center, Afula, Israel.
  • Bergman R; Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel.
  • Segal Z; Department of Dermatology, Rambam Health Care Campus, Haifa, Israel.
  • Bitterman-Deutsch O; Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.
  • Avni O; Department of Pathology, Rambam Health Care Campus, Haifa, Israel.
EMBO Mol Med ; 9(3): 319-336, 2017 03.
Article en En | MEDLINE | ID: mdl-28069640
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Codón sin Sentido / Síndrome LEOPARD / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Codón sin Sentido / Síndrome LEOPARD / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: EMBO Mol Med Asunto de la revista: BIOLOGIA MOLECULAR Año: 2017 Tipo del documento: Article