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Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

1Greehey Children's Cancer Research Institute, UT Health Science Center at San Antonio, 2Department of Cellular and Structural Biology, UT Health Science Center at San Antonio, 3Department of Pathology, UT Health Science Center at San Antonio, 4Department of Microbiology, UT Health Science Center at San Antonio, 5Cancer Therapy and Research Center, UT Health Science Center at San Antonio

JoVE 50752


 Immunology and Infection

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

1Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, 2Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 3Abramson Cancer Center

JoVE 52758


 Cancer Research

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

1Foundation Hubrecht Organoid Technology, 2Department of Pediatric Pulmonology, Regenerative Medicine Centre Utrecht, Wilhelmina Children's Hospital, University Medical Centre Utrecht, 3Department of Stem Cells and Cancer, Walter and Eliza Hall Institute of Medical Research, 4Hubrecht Institute for Developmental Biology and Stem Cell Research, University Medical Centre Utrecht

JoVE 55159


 Medicine

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and in Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

1Department of Neuroscience, Pharmacology and Child Health, University of Florence, 2INSERM, INMED, 3Aix-Marseille University, 4Plateforme Biologie Moléculaire et Cellulaire, INMED, 5Department of Neurology, Royal Children's Hospital, 6Murdoch Children's Research Institute, 7Department of Paediatrics, University of Melbourne, 8Plateforme postgenomique INMED, 9Department Molecular Medicine, University of Pavia, 10NIHR Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, 11Department of Clinical Genetics, Oxford Radcliffe NHS Trust, 12IRCCS Casimiro Mondino Foundation, 13Research Institute of Molecular Pathology, 14IRCCS Stella Maris, 15Department of Pathology and Cell Biology, Columbia University

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JoVE 53570


 JoVE In-Press

Pairwise Growth Competition Assay for Determining the Replication Fitness of Human Immunodeficiency Viruses

1Department of Microbiology, University of Washington, 2Departments of Medicine and Laboratory Medicine, University of Washington, 3U.S Military HIV Research Program, Walter Reed Army Institute of Research, 4Henry M. Jackson Foundation

JoVE 52610


 Immunology and Infection

A Combined 3D Tissue Engineered In Vitro/In Silico Lung Tumor Model for Predicting Drug Effectiveness in Specific Mutational Backgrounds

1Department of Tissue Engineering and Regenerative Medicine (TERM), University Hospital Wuerzburg, 2Department of Cardiothoracic Surgery, University Hospital Wuerzburg, 3Department of Bioinformatics, University Wuerzburg, 4Translational Center Wuerzburg, Fraunhofer Institute Interfacial Engineering and Biotechnology IGB

JoVE 53885


 Bioengineering

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