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Page 1
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: greenbaum 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.
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M. Greenbaum L, et al. Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019. Front Genet. 2019. PMID: 31428121 Free PMC article.
Analysis of common and rare VPS13C variants in late-onset Parkinson disease.
Rudakou U, Ruskey JA, Krohn L, Laurent SB, Spiegelman D, Greenbaum L, Yahalom G, Desautels A, Montplaisir JY, Fahn S, Waters CH, Levy O, Kehoe CM, Narayan S, Dauvilliers Y, Dupré N, Hassin-Baer S, Alcalay RN, Rouleau GA, Fon EA, Gan-Or Z. Rudakou U, et al. Among authors: greenbaum l. Neurol Genet. 2020 Jan 9;6(1):385. doi: 10.1212/NXG.0000000000000385. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042909 Free PMC article.
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
Pode-Shakked B, Barel O, Singer A, Regev M, Poran H, Eliyahu A, Finezilber Y, Segev M, Berkenstadt M, Yonath H, Reznik-Wolf H, Gazit Y, Chorin O, Heimer G, Gabis LV, Tzadok M, Nissenkorn A, Bar-Yosef O, Zohar-Dayan E, Ben-Zeev B, Mor N, Kol N, Nayshool O, Shimshoviz N, Bar-Joseph I, Marek-Yagel D, Javasky E, Einy R, Gal M, Grinshpun-Cohen J, Shohat M, Dominissini D, Raas-Rothschild A, Rechavi G, Pras E, Greenbaum L. Pode-Shakked B, et al. Among authors: greenbaum l. Sci Rep. 2021 Sep 27;11(1):19099. doi: 10.1038/s41598-021-98646-w. Sci Rep. 2021. PMID: 34580403 Free PMC article.
Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.
Eliyahu A, Barel O, Greenbaum L, Zaks Hoffer G, Goldberg Y, Raas-Rothschild A, Singer A, Bar-Joseph I, Kunik V, Javasky E, Staretz-Chacham O, Pode-Shakked N, Bazak L, Ruhrman-Shahar N, Pras E, Frydman M, Shohat M, Pode-Shakked B. Eliyahu A, et al. Among authors: greenbaum l. Front Pediatr. 2022 Mar 30;10:844845. doi: 10.3389/fped.2022.844845. eCollection 2022. Front Pediatr. 2022. PMID: 35433545 Free PMC article.
Vici syndrome in Israel: Clinical and molecular insights.
Chorin O, Hirsch Y, Rock R, Salzer Sheelo L, Goldberg Y, Mandel H, Hershkovitz T, Fleischer N, Greenbaum L, Katz U, Barel O, Hamed N, Ben-Zeev B, Greenberger S, Nasser Samra N, Stern Zimmer M, Raas-Rothschild A, Pode-Shakked B. Chorin O, et al. Among authors: greenbaum l. Front Genet. 2022 Sep 20;13:991721. doi: 10.3389/fgene.2022.991721. eCollection 2022. Front Genet. 2022. PMID: 36204321 Free PMC article.
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.
Dori A, Arad M, Wasserstrum Y, Pollak A, Nikitin V, Ben-David M, Shamash J, Nahum AH, Shavit-Stein E, Domachevsky L, Kuperstein R, Dominissini D, Shelestovich N, Sadeh M, Pras E, Greenbaum L. Dori A, et al. Among authors: greenbaum l. Ann Clin Transl Neurol. 2023 Apr;10(4):553-567. doi: 10.1002/acn3.51741. Epub 2023 Feb 11. Ann Clin Transl Neurol. 2023. PMID: 36772971 Free PMC article.
515 results