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Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size? by Esther Manor, Esther Manor, Azhar Jabareen, Azhar Jabareen, Nurit Magal, Nurit Magal, Arei Kofman, Arei Kofman, Randi J. Hagerman, Flora Tassone, Flora Tassone
Published 2017-11-01
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Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency by Doron M. Behar, Lina Basel-Vanagaite, Fabian Glaser, Marielle Kaplan, Shay Tzur, Nurit Magal, Tal Eidlitz-Markus, Yishay Haimi-Cohen, Galit Sarig, Concetta Bormans, Mordechai Shohat, Avraham Zeharia
Published 2014-02-01
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The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort by Aasem Abu Shtaya, Inbal Kedar, Samar Mattar, Ahmad Mahamid, Lina Basel-Salmon, Sarit Farage Barhom, Sofia Naftaly Nathan, Nurit Magal, Noy Azulay, Michal Levy Zalcberg, Rakefet Chen-Shtoyerman, Ori Segol, Mor Seri, Gili Reznick Levi, Shiri Shkedi-Rafid, Chana Vinkler, Iris Netzer, Ofir Hagari Bechar, Liat Chamma, Sari Liberman, Yael Goldberg
Published 2023-12-01
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