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Journal of Clinical Medicine|February 5, 2020
Analysis of <i>De Novo</i> Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate GenesMaria Franaszczyk, Grazyna Truszkowska, Przemyslaw Chmielewski, et al.Clinical Genetics|September 22, 2018
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spinesKrzysztof Szczałuba, Joanna J Chmielewska, Olga Sokolowska, et al.Human Molecular Genetics|August 21, 2018
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexiaRobert Smigiel, Diane L Sherman, Malgorzata Rydzanicz, et al.Frontiers in Immunology|July 5, 2022
Exposure of Keratinocytes to <i>Candida Albicans</i> in the Context of Atopic <i>Milieu</i> Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec ReceptorsAdrian Kobiela, Joanna E Frackowiak, Anna Biernacka, et al.Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 25, 2016
Cytoplasmic Cyclin E Predicts Recurrence in Patients with Breast CancerKelly K Hunt, Cansu Karakas, Min Jin Ha, et al.Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to <i>EFNA5</i>, <i>BAHD1</i> and <i>PPP2R5E</i> as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.Journal of Clinical Medicine|July 17, 2020
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care UnitRobert Śmigiel, Mateusz Biela, Krzysztof Szmyd, et al.BMC Biology|January 8, 2026
Remodeling of the cell membrane-associated protein pool affects adhesive membrane properties in filaggrin insufficient keratinocytes and impacts distinct cellular and organellar functionsAdrian Kobiela, Mikołaj Klimczuk, Paweł Kamil Serafin, et al.Blood|March 9, 2017
Ssb1 and Ssb2 cooperate to regulate mouse hematopoietic stem and progenitor cells by resolving replicative stressWei Shi, Therese Vu, Didier Boucher, et al.Pageof 6