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Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

1The NIH BD2K Center of Excellence in Biomedical Computing, University of California, Los Angeles, 2Department of Physiology, University of California, Los Angeles, 3Department of Medicine/Cardiology, University of California, Los Angeles, 4Department of Cardiology, First Affiliated Hospital, Zhejiang University School of Medicine, 5Department of Radiological Sciences, University of California, Los Angeles, 6Department of Bioengineering, University of California, Los Angeles, 7Scalable Analytics Institute (ScAi), University of California, Los Angeles, 8Department of Bioinformatics, University of California, Los Angeles, 9Department of Computer Science, University of California, Los Angeles

JoVE 58392


 Medicine

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

Isolation and Immortalization of Patient-derived Cell Lines from Muscle Biopsy for Disease Modeling

1Department of Cell Biology, UT Southwestern Medical Center, 2National Institute of Neurological Disorders and Stroke, National Institute of Health, 3Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, 4Division of Genetics and Genomics, Boston Children's Hospital

JoVE 52307


 Medicine

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

1Division of Pediatric Neurology, University Children's Hospital Basel (UKBB), University of Basel, 2Department of Neurology, University of Basel Hospital, 3Division of Neurology, Medical University Clinic, Kantonsspital Baselland, 4Division of Pediatric Neurology, CHUV, 5Division of Neuropaediatrics, Inselspital, University Children's Hospital Bern, 6Department of Radiology, Division of Radiological Physics, University of Basel Hospital, 7Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, L'Escale, Service de Médecine Physique et de Réadaptation Pédiatrique

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JoVE 58784


 JoVE In-Press

An Objective and Child-friendly Assessment of Arm Function by Using a 3-D Sensor

1Data Science, Roche Pharmaceutical Research and Early Development Informatics, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd., 2Translational Technologies and Bioinformatics, Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd., 3Biomarker Experimental Medicine, Neuroscience, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd., 4Division of Neuropediatrics, University of Basel Children's Hospital, 5Department of Neurology, University of Basel Hospital, 6Translational Medicine, Neuroscience and Rare Diseases, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Ltd.

JoVE 57014


 Behavior

Engineering Transplantation-suitable Retinal Pigment Epithelium Tissue Derived from Human Embryonic Stem Cells

1U861, I-Stem, Association Française contre les Myopathies (AFM), Institut National de la Santé et de la Recherche Médicale (INSERM), 2U861, I-Stem, Association Française contre les Myopathies (AFM), Université Evry Val-d'Essonne (UEVE), 3I-Stem, Association Française contre les Myopathies (AFM), Centre pour L’Etude des Cellules Souches (CECS), 4Banque de tissus humain, Hôpital Saint Louis, Assistance Publique - Hôpitaux de Paris (AP-HP), 5Sorbonne Université, INSERM, CNRS, Institut de la Vision, F-75012

JoVE 58216


 Developmental Biology

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