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94 results

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Page 1
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: rosenheck s. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: rosenheck s. Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111. Hum Mol Genet. 2019. PMID: 31127942 Free PMC article.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ. Cheng H, et al. Among authors: rosenheck s. Hum Mol Genet. 2020 Mar 27;29(5):877-878. doi: 10.1093/hmg/ddz173. Hum Mol Genet. 2020. PMID: 32027362 Free PMC article. No abstract available.
Pediatric Inpatient Insulin Pump Use and Glycemic Control.
Rosenheck S, Chen C, Regelmann MO. Rosenheck S, et al. JAMA Netw Open. 2024 Feb 5;7(2):e2354547. doi: 10.1001/jamanetworkopen.2023.54547. JAMA Netw Open. 2024. PMID: 38324317 Free article. No abstract available.
Similar Long-Term Outcomes in Children Presenting With Abscess vs Phlegmon at Diagnosis of Crohn Disease.
Fondell AW, Mosha MH, Maltz RM, Boyle BM, Niklinska-Schirtz BJ, Kugathasan S, Gibson ME, Shapiro JM, Rosenheck SM, Langseder AL, Kennedy MC, Rosh JR, Hyams JS. Fondell AW, et al. Among authors: rosenheck sm. Crohns Colitis 360. 2020 Jul 20;2(3):otaa060. doi: 10.1093/crocol/otaa060. eCollection 2020 Jul. Crohns Colitis 360. 2020. PMID: 36776501 Free PMC article.
Developing a risk score to predict mortality in the first year after implantable cardioverter defibrillator implantation: Data from the Israeli ICD Registry.
Nevzorov R, Goldenberg I, Konstantino Y, Golovchiner G, Strasberg B, Souleiman M, Khalameizer V, Ben-Zvi S, Sela R, Rosenheck S, Freedberg NA, Geist M, Cohen ME, Cohen T, Shlomo N, Gabrielov-Yusim N, Geva D, Glikson M, Haim M; Israeli working group of pacing and electrophysiology, the Israel Heart Society. Nevzorov R, et al. Among authors: rosenheck s. J Cardiovasc Electrophysiol. 2018 Nov;29(11):1540-1547. doi: 10.1111/jce.13725. Epub 2018 Sep 25. J Cardiovasc Electrophysiol. 2018. PMID: 30168227
Is short always important?
Rosenheck S. Rosenheck S. Heart Rhythm. 2018 Feb;15(2):256-257. doi: 10.1016/j.hrthm.2017.09.033. Epub 2017 Sep 21. Heart Rhythm. 2018. PMID: 28941710 No abstract available.
Clinical Outcomes in Patients with Severe Renal Dysfunction Including Dialysis Following Defibrillator Implantation.
Bogdan S, Nof E, Eisen A, Sela R, Rosenheck S, Freedberg N, Geist M, Ben-Zvi S, Haim M, Glikson M, Goldenberg I, Suleiman M; Israeli working group of pacing and electrophysiology of the Israeli Heart Society. Bogdan S, et al. Among authors: rosenheck s. Am J Nephrol. 2015;42(4):295-304. doi: 10.1159/000440772. Epub 2015 Oct 31. Am J Nephrol. 2015. PMID: 26529418
94 results