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Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Birnbaum, Rivka; Ezer, Shlomit; Lotan, Nava Shaul; Eilat, Avital; Sternlicht, Keren; Benyamini, Lilach; Reish, Orit; Falik-Zaccai, Tzipora; Ben-Gad, Gali; Rod, Raya; Segel, Reeval; Kim, Katherine; Burton, Barabra; Keegan, Catherine E; Wagner, Mallory; Henderson, Lindsay B; Mor, Nofar; Barel, Ortal; Hirsch, Yoel; Meiner, Vardiella; Elpeleg, Orly; Harel, Tamar; Mor-Shakad, Hagar.
Affiliation
  • Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
  • Ezer S; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Lotan NS; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
  • Eilat A; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
  • Sternlicht K; Genetics Institute, Shamir Medical Center, Tzrifin, Israel.
  • Benyamini L; Genetics Institute, Shamir Medical Center, Tzrifin, Israel.
  • Reish O; Genetics Institute, Shamir Medical Center, Tzrifin, Israel.
  • Falik-Zaccai T; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Ben-Gad G; Institute of Human Genetics, Western Galilee Hospital-Nahariya, Nahariya, Israel.
  • Rod R; Department of Child Development, Galilee Medical Center, Nahariya, Israel.
  • Segel R; The Center for Child Development and Pediatric Neurology, Western Galilee Hospital-Naharyia, Nahariya, Israel.
  • Kim K; Genetics, Shaare-Zedek, Jerusalem, Israel.
  • Burton B; Genetics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Keegan CE; Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Wagner M; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Henderson LB; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Mor N; Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.
  • Barel O; GeneDx, Gaithersburg, Maryland, USA.
  • Hirsch Y; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Meiner V; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Elpeleg O; Research, Dor Yeshroim, Brooklyn, New York, USA.
  • Harel T; Dor Yeshorim, New York, New York, USA.
  • Mor-Shakad H; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
J Med Genet ; 61(3): 289-293, 2024 Feb 21.
Article in En | MEDLINE | ID: mdl-37833060
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: J Med Genet Year: 2024 Document type: Article Affiliation country: Country of publication: