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Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

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Title: Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
Authors: Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il., Greenbaum L; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel., Lev-Hochberg S; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Feinstein-Goren N; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Eliyahu A; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Shani H; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Pras E; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel., Weissbach T; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel., Bolkier Y; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Cardiology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Heimer G; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Lev D; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel., Michelson M; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel., Regev M; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel., Josefsberg S; The Genetics Institute, Kaplan Medical Center, Rehovot, Israel., Batzir NA; Pediatrics Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel., Shalata A; Genetics Institute, Bnai Zion Medical Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Spiegel R; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pediatrics B, Metabolic Service, Emek Medical Center, Afula, Israel.; Institute for Rare Diseases, Emek Medical Center, Afula, Israel., Segel R; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Lobel O; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel., Abu-Libdeh B; Department of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Israel., Shohat M; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Maccabi Genetic Institute, Maccabi Health Services, Tel Aviv-Yafo, Israel.; Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel., Frydman M; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel., Hady-Cohen R; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel., Pode-Shakked B; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel., Rein-Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 18; Vol. 20 (1), pp. 132. Date of Electronic Publication: 2025 Mar 18.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Chorin+O%22">Chorin O</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel. odelia.chorin@sheba.health.gov.il.<br /><searchLink fieldCode="AU" term="%22Greenbaum+L%22">Greenbaum L</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Lev-Hochberg+S%22">Lev-Hochberg S</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Feinstein-Goren+N%22">Feinstein-Goren N</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Eliyahu+A%22">Eliyahu A</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Shani+H%22">Shani H</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Pras+E%22">Pras E</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Weissbach+T%22">Weissbach T</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Bolkier+Y%22">Bolkier Y</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Cardiology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Heimer+G%22">Heimer G</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Lev+D%22">Lev D</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.<br /><searchLink fieldCode="AU" term="%22Michelson+M%22">Michelson M</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.<br /><searchLink fieldCode="AU" term="%22Regev+M%22">Regev M</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Josefsberg+S%22">Josefsberg S</searchLink>; The Genetics Institute, Kaplan Medical Center, Rehovot, Israel.<br /><searchLink fieldCode="AU" term="%22Batzir+NA%22">Batzir NA</searchLink>; Pediatrics Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikvah, Israel.<br /><searchLink fieldCode="AU" term="%22Shalata+A%22">Shalata A</searchLink>; Genetics Institute, Bnai Zion Medical Center, Haifa, Israel.; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Spiegel+R%22">Spiegel R</searchLink>; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pediatrics B, Metabolic Service, Emek Medical Center, Afula, Israel.; Institute for Rare Diseases, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Segel+R%22">Segel R</searchLink>; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Lobel+O%22">Lobel O</searchLink>; Shaare Zedek Medical Center, Wolf Children's Hospital, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Abu-Libdeh+B%22">Abu-Libdeh B</searchLink>; Department of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Shohat+M%22">Shohat M</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Maccabi Genetic Institute, Maccabi Health Services, Tel Aviv-Yafo, Israel.; Bioinformatics Unit, Sheba Cancer Research Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Frydman+M%22">Frydman M</searchLink>; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Hady-Cohen+R%22">Hady-Cohen R</searchLink>; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.; Magen Center for Rare Diseases, Wolfson Medical Center, Holon, Israel.<br /><searchLink fieldCode="AU" term="%22Pode-Shakked+B%22">Pode-Shakked B</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Rein-Rothschild+A%22">Rein-Rothschild A</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Danek Gertner Institute of Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Ramat Gan, Israel.
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