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Neurology. Genetics|February 10, 2017
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, et al.Nature Biotechnology|June 30, 2015
Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cellsAyal Hendel, Rasmus O Bak, Joseph T Clark, et al.Nature|November 8, 2016
CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cellsDaniel P Dever, Rasmus O Bak, Andreas Reinisch, et al.American Journal of Medical Genetics. Part A|March 28, 2013
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomyJennifer M Kalish, Laura K Conlin, Sogol Mostoufi-Moab, et al.American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.Science Immunology|April 19, 2024
TIM-3+ CD8 T cells with a terminally exhausted phenotype retain functional capacity in hematological malignanciesSimone A Minnie, Olivia G Waltner, Ping Zhang, et al.The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.American Journal of Human Genetics|July 8, 2017
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial FeaturesCara M Skraban, Constance F Wells, Preetha Markose, et al.Science (New York, N.Y.)|November 27, 2025
The dispersal of domestic cats from North Africa to Europe around 2000 years agoM De Martino, B De Cupere, V Rovelli, et al.Pageof 2