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94 results

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Page 1
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.
Risheg H, Graham JM Jr, Clark RD, Rogers RC, Opitz JM, Moeschler JB, Peiffer AP, May M, Joseph SM, Jones JR, Stevenson RE, Schwartz CE, Friez MJ. Risheg H, et al. Among authors: joseph sm. Nat Genet. 2007 Apr;39(4):451-3. doi: 10.1038/ng1992. Epub 2007 Mar 4. Nat Genet. 2007. PMID: 17334363
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.
Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE. Schwartz CE, et al. Among authors: joseph sm. J Med Genet. 2007 Jul;44(7):472-7. doi: 10.1136/jmg.2006.048637. Epub 2007 Mar 16. J Med Genet. 2007. PMID: 17369503 Free PMC article.
Sexual Quality of Life in Left Ventricular Assist Device Patients and Their Partners.
Van Zyl JS, Shelton C, Alam K, Parker L, Jamil AK, Felius J, Mathew C, Carey SA, Funk C, Warren AM, Joseph SM, Hall SA, Alam A. Van Zyl JS, et al. Among authors: joseph sm. J Card Fail. 2024 May 15:S1071-9164(24)00158-1. doi: 10.1016/j.cardfail.2024.04.020. Online ahead of print. J Card Fail. 2024. PMID: 38754697
Engineering highly thermostable Cas12b via de novo structural analyses for one-pot detection of nucleic acids.
Nguyen LT, Rananaware SR, Yang LG, Macaluso NC, Ocana-Ortiz JE, Meister KS, Pizzano BLM, Sandoval LSW, Hautamaki RC, Fang ZR, Joseph SM, Shoemaker GM, Carman DR, Chang L, Rakestraw NR, Zachary JF, Guerra S, Perez A, Jain PK. Nguyen LT, et al. Among authors: joseph sm. Cell Rep Med. 2023 May 16;4(5):101037. doi: 10.1016/j.xcrm.2023.101037. Epub 2023 May 8. Cell Rep Med. 2023. PMID: 37160120 Free PMC article.
Delusional Disorder.
Joseph SM, Siddiqui W. Joseph SM, et al. 2023 Mar 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Mar 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30969677 Free Books & Documents.
Transcatheter Left Ventricular Restoration in Patients With Heart Failure.
Hamid N, Jorde UP, Reisman M, Latib A, Lim DS, Joseph SM, Kurlianskaya A, Polonetsky O, Neuzil P, Reddy V, Foerst J, Gada H, Grubb KJ, Silva G, Kereiakes D, Shreenivas S, Pinney S, Davidavicius G, Sorajja P, Boehmer JP, Kleber FX, Perier P, VAN Mieghem NM, Dumonteil N, Leon MB, Burkhoff D. Hamid N, et al. Among authors: joseph sm. J Card Fail. 2023 Jul;29(7):1046-1055. doi: 10.1016/j.cardfail.2023.03.003. Epub 2023 Mar 22. J Card Fail. 2023. PMID: 36958391 Free article. Clinical Trial.
Longitudinal Echocardiogram Imaging in the First Genetically Modified Porcine to Human Cardiac Xenotransplant.
Hong SN, Mohiuddin MM, Ananthram M, Soares C, Goerlich CE, Dickfeld TL, Hanna P, Hong CC, Benitez M, Joseph SM, Gupta A, Grazioli A, Griffith BP. Hong SN, et al. Among authors: joseph sm. JACC Cardiovasc Imaging. 2023 Apr;16(4):553-557. doi: 10.1016/j.jcmg.2023.01.012. Epub 2023 Feb 20. JACC Cardiovasc Imaging. 2023. PMID: 36813614 Free article. No abstract available.
Genetically Modified Porcine-to-Human Cardiac Xenotransplantation.
Griffith BP, Goerlich CE, Singh AK, Rothblatt M, Lau CL, Shah A, Lorber M, Grazioli A, Saharia KK, Hong SN, Joseph SM, Ayares D, Mohiuddin MM. Griffith BP, et al. Among authors: joseph sm. N Engl J Med. 2022 Jul 7;387(1):35-44. doi: 10.1056/NEJMoa2201422. Epub 2022 Jun 22. N Engl J Med. 2022. PMID: 35731912 Free PMC article.
94 results