Zobrazeno 1 - 10
of 678
pro vyhledávání: '"Marek-Yagel D"'
Autor:
Heimer G; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel., Pode-Shakked B; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Marek-Yagel D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Vernitsky H; Hematology Laboratory, Sheba Medical Center, Ramat Gan, Israel., Tzadok M; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Eyal E; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Ramat Gan, Israel., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel., Atzmon G; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Medicine, Albert Einstein College of Medicine, Bronx, New York, USA.; Department of Human Biology, Haifa University, Haifa, Israel., Anikster Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Oct 19. Date of Electronic Publication: 2024 Oct 19.
Autor:
Weisz-Hubshman, M., Meirson, H., Michaelson-Cohen, R., Beeri, R., Tzur, S., Bormans, C., Modai, S., Shomron, N., Shilon, Y., Banne, E., Orenstein, N., Konen, O., Marek-Yagel, D., Veber, A., Shalva, N., Imagawa, E., Matsumoto, N., Lev, D., Lerman Sagie, T., Raas-Rothschild, A., Ben-Zeev, B., Basel-Salmon, L., Behar, D.M., Heimer, G.
Publikováno v:
In European Journal of Paediatric Neurology May 2019 23(3):418-426
Autor:
Isakov O; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Zeev Jabotinsky 39, Petach Tikva 4941492, Israel.; Clalit Research Institute, Clalit Health Services, Tuval 40, Ramat Gan 5252247, Israel.; The Ivan and Francesca Berkowitz Family Living Laboratory Collaboration, Harvard Medical School and Clalit Research Institute, 10 Shattuck Street, Suite 514, Boston, MA 02115, USA.; Faculty of Medicine, Tel Aviv University, Klachkin 35, Tel Aviv 6997801, Israel., Marek-Yagel D; Clalit Research Institute, Clalit Health Services, Tuval 40, Ramat Gan 5252247, Israel., Greenberg R; Clalit Research Institute, Clalit Health Services, Tuval 40, Ramat Gan 5252247, Israel., Naftali M; Clalit Research Institute, Clalit Health Services, Tuval 40, Ramat Gan 5252247, Israel., Ben-Shachar S; Clalit Research Institute, Clalit Health Services, Tuval 40, Ramat Gan 5252247, Israel.; The Ivan and Francesca Berkowitz Family Living Laboratory Collaboration, Harvard Medical School and Clalit Research Institute, 10 Shattuck Street, Suite 514, Boston, MA 02115, USA.; Faculty of Medicine, Tel Aviv University, Klachkin 35, Tel Aviv 6997801, Israel.
Publikováno v:
Database : the journal of biological databases and curation [Database (Oxford)] 2024 Jul 23; Vol. 2024.
Autor:
Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Clalit Research Institute, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Stenke E; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland., Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Dunne C; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland.; Department of Gastroenterology, St James' Hospital, Dublin, Ireland., Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland-Temple Street, Dublin, Ireland., Bryce-Smith A; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland., McDermott M; Department of Histopathology, Children's Health Ireland-Crumlin, Dublin, Ireland., O'Sullivan MJ; Department of Histopathology, Children's Health Ireland-Crumlin, Dublin, Ireland., Veber A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Krishnamurthy M; Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA., Wells JM; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Center for Stem Cell and Organoid Medicine (CuSTOM), Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA.; Division of Endocrinology, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, USA., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Bourke B; National Centre for Paediatric Gastroenterology, National Children's Research Center, Children's Health Ireland-Crumlin, Dublin, Ireland. Billy.Bourke@ucd.ie.; School of Medicine, University College Dublin, Dublin, Ireland. Billy.Bourke@ucd.ie.
Publikováno v:
Human genetics [Hum Genet] 2023 May; Vol. 142 (5), pp. 691-696. Date of Electronic Publication: 2022 Sep 09.
Autor:
Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Abudi-Sinreich S; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States., Macarov M; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Veber A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel., Shalva N; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel., Philosoph AM; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel., Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Talpiot Medical Leadership Program, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States.; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director and National Human Genome Research Institute, Bethesda, MD, United States., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Ramat Gan, Tel-Hahsomer, Israel.
Publikováno v:
Frontiers in genetics [Front Genet] 2022 Aug 15; Vol. 13, pp. 936064. Date of Electronic Publication: 2022 Aug 15 (Print Publication: 2022).
Autor:
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou-Munoz C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG
Publikováno v:
JCI Insight
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes of mutations that may serve as potential targets for precision medicine therapeutics. Here, we show that a deep intronic splice defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::356cc5223cc739e1ed0f9ebd4d5542dc
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16101
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16101
Autor:
Bolkier Y; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Barel O; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel., Marek-Yagel D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Atias-Varon D; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Kagan M; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Vardi A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatric Cardiac Intensive Care, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Mishali D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatric Cardiac Intensive Care, Edmond Safra International Congenital Heart Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Katz U; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Salem Y; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Tirosh-Wagner T; Pediatric Heart Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Jacobson JM; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Pediatric Imaging Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Chorin O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Eliyahu A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel., Sarouf Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Shlomovitz O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Veber A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Shalva N; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Javasky E; Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Ben Moshe Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Staretz-Chacham O; Metabolic Clinic, Division of Pediatrics, Soroka Medical Center, Ben-Gurion University, Beer Sheva, Israel., Rechavi G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel.; Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Anikster Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Israel., Vivante A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel ben_pode@hotmail.com.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Talpiot Medical Leadership Program, Sheba Medical Center, Tel Hashomer, Israel.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 691-696. Date of Electronic Publication: 2021 Jul 02.
Autor:
Pode-Shakked B; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Ben-Moshe Y; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Regev LC; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Kagan M; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Danek Gertner Institute for Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Marek-Yagel D; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Atias-Varon D; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Lahav E; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Issler N; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Shlomovitz O; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Semo Oz R; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Kol N; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Mor N; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Bar-Joseph I; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Khavkin Y; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Javasky E; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Beckerman P; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology and Hypertension, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Greenberg M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Meir Medical Center, Kfar Saba, Israel., Volovelsky O; Pediatric Nephrology Unit and Research Lab, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Wohl Translational Research Institute, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Borovitz Y; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Davidovits M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Haskin O; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Alfandary H; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Levi S; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Kaidar M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Edith Wolfson Medical Center, Holon, Israel., Katzir Z; Nephrology and Hypertension Institute, Samson Assuta University Hospital, Ashdod, Israel.; Ben Gurion University, Beer Sheva, Israel., Angel-Korman A; Nephrology and Hypertension Institute, Samson Assuta University Hospital, Ashdod, Israel.; Ben Gurion University, Beer Sheva, Israel., Becker-Cohen R; Institute of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Ben-Shalom E; Institute of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Leiba A; Nephrology and Hypertension Institute, Samson Assuta University Hospital, Ashdod, Israel.; Ben Gurion University, Beer Sheva, Israel.; Israel Defense Forces Medical Corps, Tel Aviv, Israel.; Department of Medicine, Mount Auburn Hospital, Harvard Medical School, Boston, MA, USA., Mor E; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Transplant Center, Department of Surgery and Transplantation, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Dagan A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Pessach IM; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Department of Pediatric Intensive Care, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Lotan D; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Shashar M; Nephrology Section, Laniado Hospital, Netanya, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel., Anikster Y; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Raas-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Rechavi G; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Dekel B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.; Pediatric Stem Cell Research Institute, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Vivante A; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5265601, Ramat Gan, Israel. asafvivante@gmail.com.; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel. asafvivante@gmail.com.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. asafvivante@gmail.com.; Pediatric Nephrology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel. asafvivante@gmail.com.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Jul; Vol. 37 (7), pp. 1623-1646. Date of Electronic Publication: 2022 Jan 07.
Autor:
Steg Saban O; Pediatrics Department B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Abu-Libdeh B; Departments of Pediatrics and Genetics, Makassed Hospital and Al-Quds Medical School, East Jerusalem, Palestine., Granot M; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Barkai G; Pediatrics Department B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Infectious Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Haberman Y; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Roterman I; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Lahad A; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Shouval DS; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Weiss B; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Loberman-Nachum N; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Abraham S; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Somech R; Pediatrics Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Weinstein DA; Glycogen Storage Disease Program, University of Connecticut School of Medicine (Farmington, CT), Connecticut Children's Medical Center, Hartford, CT, USA., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address: Yair.Anikster@sheba.health.gov.il.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2022 Jun; Vol. 65 (6), pp. 104518. Date of Electronic Publication: 2022 May 09.
Autor:
Marek-Yagel D; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Eliyahu A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel., Veber A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Shalva N; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Philosoph AM; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Barel O; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Javasky E; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel., Loewenthal N; Pediatric Endocrinology Diabetes Unit, Soroka Medical Center, Faculty of Health Sciences, Ben-Gurion University, Beer Sheva, Israel., Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel., Staretz-Chacham O; Metabolic Clinic, Pediatric Division, Soroka Medical Center, Ben-Gurion University, Beer Sheva, Israel.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3804-3809. Date of Electronic Publication: 2021 Aug 26.