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Journal of Medical Genetics|March 8, 2019
NAA10 polyadenylation signal variants cause syndromic microphthalmiaJennifer J Johnston, Kathleen A Williamson, Christopher M Chou, et al.Nature Communications|February 18, 2022
TRPC3 shapes the ER-mitochondria Ca2+ transfer characterizing tumour-promoting senescenceValerio Farfariello, Dmitri V Gordienko, Lina Mesilmany, et al.Nature Genetics|July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.Journal of the American College of Cardiology|March 22, 2019
Sonothrombolysis in ST-Segment Elevation Myocardial Infarction Treated With Primary Percutaneous Coronary InterventionWilson Mathias, Jeane M Tsutsui, Bruno G Tavares, et al.Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology|December 20, 2011
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cellsAzra Fatima, Guoxing Xu, Kaifeng Shao, et al.The Journal of Trauma and Acute Care Surgery|October 26, 2017
Expanding the scope of quality measurement in surgery to include nonoperative care: Results from the American College of Surgeons National Surgical Quality Improvement Program emergency general surgery pilotMichael W Wandling, Clifford Y Ko, Paul E Bankey, et al.IJID Regions|August 4, 2025
Prevalence and risk factors of hepatitis B virus infection in Zakho City, Kurdistan Region, Iraq; a population-based studyNawfal R Hussein, Ibrahim A Naqid, Halder J Abozait, et al.Journal of Hepatology|November 8, 2023
Inhibition of the renal apical sodium dependent bile acid transporter prevents cholemic nephropathy in mice with obstructive cholestasisAhmed Ghallab, Daniela González, Ellen Strängberg, et al.EMBO Molecular Medicine|January 11, 2017
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndromeTzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, et al.Pageof 212