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Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A, Shor O, Fellner A, Hellmann MA, Pras E, Yonath H, Shkedi-Rafid S, Basel-Salmon L, Bazak L, Eliahou R, Greenbaum L, Stiebel-Kalish H, Benninger F, Goldberg Y. Wilf-Yarkoni A, et al. Among authors: bazak l. Neurol Genet. 2021 Mar 19;7(2):e578. doi: 10.1212/NXG.0000000000000578. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33763535 Free PMC article.
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. Among authors: bazak l. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241
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
46 results