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216 results

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Page 1
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: yaron y. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Expanded targeted preconception screening panel in Israel: findings and insights.
Reches A, Ofen Glassner V, Goldstein N, Yeshaya J, Delmar G, Portugali E, Hallas T, Weinstein A, Kurolap A, Berkenstadt M, Mantsour T, Abu-Gutstein L, Ries-Levavi L, Reznik-Wolf H, Behar DM, Yaron Y, Pras E, Baris Feldman H. Reches A, et al. Among authors: yaron y. J Med Genet. 2024 May 6:jmg-2023-109629. doi: 10.1136/jmg-2023-109629. Online ahead of print. J Med Genet. 2024. PMID: 38719349
Quality, availability and suitability of antimicrobial stewardship guidance: a multinational qualitative study.
Linde-Ozola Z, Classen AY, Giske CG, Göpel S, Eliakim-Raz N, Semret M, Simonsen GS, Vehreschild JJ, Jørgensen SB, Kessel J, Kleppe LKS, Oma DH, Vehreschild MJGT, Vilde A, Dumpis U; PILGRIM study group. Linde-Ozola Z, et al. JAC Antimicrob Resist. 2024 Mar 14;6(2):dlae039. doi: 10.1093/jacamr/dlae039. eCollection 2024 Apr. JAC Antimicrob Resist. 2024. PMID: 38486662 Free PMC article.
Reply.
Brabbing-Goldstein D, Basel-Salmon L, Yaron Y. Brabbing-Goldstein D, et al. Among authors: yaron y. Ultrasound Obstet Gynecol. 2024 Mar;63(3):428-430. doi: 10.1002/uog.27597. Ultrasound Obstet Gynecol. 2024. PMID: 38426869 No abstract available.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Michaelson-Cohen R, Salzer LS, Brabbing-Goldstein D, Yaron Y, Reches A, Yonath H, Regev M, Shani H, Altarescu G, Segel R, Sukenik-Halevy R, Daum H, Harel T, Meiner V, Basel-Salmon L, Sagi-Dain L, Maya I. Michaelson-Cohen R, et al. Among authors: yaron y. Prenat Diagn. 2024 Apr;44(4):511-518. doi: 10.1002/pd.6535. Epub 2024 Feb 14. Prenat Diagn. 2024. PMID: 38353311
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F. Blayney GV, et al. Among authors: yaron y. Prenat Diagn. 2024 Apr;44(4):422-431. doi: 10.1002/pd.6466. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054560 Free PMC article.
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: yaron y. Ultrasound Obstet Gynecol. 2024 Mar;63(3):392-398. doi: 10.1002/uog.27482. Ultrasound Obstet Gynecol. 2024. PMID: 37718619
216 results