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The genetic landscape of Lynch syndrome in the Israeli population.
Shtaya AA, Nathan SN, Kedar I, Friedman E, Half E, Lidzbarsky G, Levi GR, Laish I, Katz L, Bazak L, Peretz LP, Salmon LB, Douiev L, Kalis ML, Schechter M, Barzily-Rokni M, Samra NN, Abu-Freha N, Hagari-Bechar O, Segol O, Mattar S, Barhom SF, Mordechai S, Rafid SS, Shalev SA, Peretz-Yablonski T, Levi Z, Bruchim R, Vinkler C, Bernstein-Molho R, Lieberman S, Goldberg Y. Shtaya AA, et al. Among authors: bazak l. Fam Cancer. 2024 Nov 15;24(1):6. doi: 10.1007/s10689-024-00432-w. Fam Cancer. 2024. PMID: 39546165 Free PMC article.
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.
Brabbing-Goldstein D, Bazak L, Ruhrman-Shahar N, Lidzbarsky GA, Orenstein N, Lifshiz-Kalis M, Asia-Batzir N, Goldberg Y, Basel-Salmon L. Brabbing-Goldstein D, et al. Among authors: bazak l. Prenat Diagn. 2024 Nov;44(12):1423-1434. doi: 10.1002/pd.6659. Epub 2024 Sep 5. Prenat Diagn. 2024. PMID: 39237446
A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Abu Shtaya A, Kedar I, Bazak L, Basel-Salmon L, Barhom SF, Naftali M, Eskin-Schwartz M, Birk OS, Polager-Modan S, Keidar N, Reznick Levi G, Levi Z, Yablonski-Peretz T, Mahamid A, Segol O, Matar R, Bareli Y, Azoulay N, Goldberg Y. Abu Shtaya A, et al. Among authors: bazak l. Genes (Basel). 2024 Mar 13;15(3):355. doi: 10.3390/genes15030355. Genes (Basel). 2024. PMID: 38540414 Free PMC article. Review.
Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Brabbing-Goldstein D, Kozlova D, Bazak L, Basel-Salmon L, Gilboa Y, Marciano-Levi I, Zahra J, Kanengisser-Pines B, Botvinik A, Kurolap A, Birnbaum R, Yaron Y. Brabbing-Goldstein D, et al. Among authors: bazak l. Ultrasound Obstet Gynecol. 2024 Mar;63(3):392-398. doi: 10.1002/uog.27482. Ultrasound Obstet Gynecol. 2024. PMID: 37718619
49 results