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. |
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| 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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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-025-03598-3 |
