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Epilepsy & Behavior : E&B|February 7, 2018
Prospective longitudinal overnight video-EEG evaluation in Phelan-McDermid SyndromeOmar I Khan, Xiangping Zhou, Jill Leon, et al.
Stem Cell Reports|August 30, 2016
Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived CardiomyocytesRebecca Josowitz, Sonia Mulero-Navarro, Nelson A Rodriguez, et al.
NPJ Genomic Medicine|January 26, 2018
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletionJennifer Reiner, Laura Pisani, Wanqiong Qiao, et al.
Journal of Medical Genetics|September 15, 2006
An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autismLisa Edelmann, Aaron Prosnitz, Sherly Pardo, et al.
Biorxiv : the Preprint Server for Biology|February 26, 2024
Integrated transcriptomic analysis of human induced pluripotent stem cell-derived osteogenic differentiation reveals a regulatory role of KLF16Ying Ru, Meng Ma, Xianxiao Zhou, et al.
Journal of Molecular and Cellular Cardiology|May 13, 2018
Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytesDelaine K Ceholski, Irene C Turnbull, Chi-Wing Kong, et al.
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