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228 results

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Page 1
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: shalev s. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026
The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
Aboleil-Zoubi O, Gafni-Amsalem C, Peled-Perets L, Mamluk E, Tamir L, Hakrosh S, Kurtzman S, Chervinsky E, Aalimi U, Husam B, Khayat M, Baram-Tsabari A, Shalev SA. Aboleil-Zoubi O, et al. Among authors: shalev sa. J Genet Couns. 2023 Aug 26. doi: 10.1002/jgc4.1774. Online ahead of print. J Genet Couns. 2023. PMID: 37632224
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Ben Yosef T, Banin E, Chervinsky E, Shalev SA, Leibu R, Mezer E, Rotenstreich Y, Goldenberg-Cohen N, Weiss S, Khan MI, Panneman DM, Hitti-Malin RJ, Weiner C, Roosing S, Cremers FPM, Pras E, Zur D, Newman H, Deitch I, Sharon D, Ehrenberg M. Ben Yosef T, et al. Among authors: shalev sa. Mol Vis. 2023 Apr 22;29:1-12. eCollection 2023. Mol Vis. 2023. PMID: 37287645 Free PMC article.
Personal journeys to and in human genetics and dysmorphology.
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. Schwartz CE, et al. Among authors: shalev sa. Am J Med Genet A. 2024 Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8. Am J Med Genet A. 2024. PMID: 38329159
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.
Gafni-Amsalem C, Aboleil-Zoubi O, Chervinsky E, Aleme O, Khayat M, Bashir H, Perets LP, Mamluk E, Hakrosh S, Kurtzman S, Tamir L, Baram-Tsabari A, Shalev SA. Gafni-Amsalem C, et al. Among authors: shalev sa. J Community Genet. 2024 Apr;15(2):137-146. doi: 10.1007/s12687-023-00694-4. Epub 2023 Dec 20. J Community Genet. 2024. PMID: 38114746 Free PMC article.
Esketamine Nasal Spray versus Quetiapine for Treatment-Resistant Depression.
Reif A, Bitter I, Buyze J, Cebulla K, Frey R, Fu DJ, Ito T, Kambarov Y, Llorca PM, Oliveira-Maia AJ, Messer T, Mulhern-Haughey S, Rive B, von Holt C, Young AH, Godinov Y; ESCAPE-TRD Investigators. Reif A, et al. N Engl J Med. 2023 Oct 5;389(14):1298-1309. doi: 10.1056/NEJMoa2304145. N Engl J Med. 2023. PMID: 37792613 Clinical Trial.
Erratum to "A randomized trial to investigate needle redirections/re-insertions using a handheld ultrasound device versus traditional palpation for spinal anesthesia in obese women undergoing cesarean delivery" [Int. J. Obstetric Anesth. 49 (2022) 103229].
Weiniger CF, Carvalho B, Ronel I, Greenberger C, Aptekman B, Almog O, Kagan G, Shalev S. Weiniger CF, et al. Among authors: shalev s. Int J Obstet Anesth. 2023 Nov;56:103903. doi: 10.1016/j.ijoa.2023.103903. Epub 2023 Jul 27. Int J Obstet Anesth. 2023. PMID: 37516605 No abstract available.
228 results