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    المساهمون: Movement Disorder (MD)

    المصدر: PLoS genetics, 15(4):1008088. PUBLIC LIBRARY SCIENCE
    PLoS Genetics
    PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)
    Plos Genetics, 15
    Plos Genetics, 15, 4

    مصطلحات موضوعية: Male, Enzyme Metabolism, Gene Identification and Analysis, PROTEIN, Disease, VARIANTS, Biochemistry, Diagnostic Radiology, Consanguinity, 0302 clinical medicine, Animal Cells, Child, Enzyme Chemistry, Connective Tissue Cells, 0303 health sciences, Mutation, PRIMARY CILIUM, 3. Good health, Pedigree, Phosphorylation, Medical genetics, Bone Diseases, Cellular Structures and Organelles, Cellular Types, medicine.medical_specialty, Imaging Techniques, Dwarfism, DIAGNOSIS, Cataract, 03 medical and health sciences, Cataracts, Genetics, Humans, Phosphatidylinositol, Cilia, Molecular Biology, Mutation Detection, Ecology, Evolution, Behavior and Systematics, CLASS-II PI3K, Bone Diseases, Developmental, Biology and Life Sciences, Fibroblasts, medicine.disease, LOWE, PI3K-C2-ALPHA, Ophthalmology, Endocrinology, Biological Tissue, chemistry, Lens Disorders, 030217 neurology & neurosurgery, Cancer Research, QH426-470, medicine.disease_cause, chemistry.chemical_compound, Phosphatidylinositol 3-Kinases, Medizinische Fakultät, Medicine and Health Sciences, Developmental, Genetics (clinical), Cilium, Radiology and Imaging, GENETIC-VARIATION, Phenotype, Magnetic Resonance Imaging, NUMBER VARIATION DETECTION, Connective Tissue, Female, medicine.symptom, Anatomy, Ciliary Motility Disorders, Research Article, Adult, Adolescent, Young Adult, Biology, Research and Analysis Methods, Short stature, All institutes and research themes of the Radboud University Medical Center, Diagnostic Medicine, Internal medicine, medicine, ddc:610, PI3K/AKT/mTOR pathway, 030304 developmental biology, Clinical Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Coarse facial features, Cell Biology, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Metabolic Disorders, Enzymology, CONGENITAL MUSCULAR-DYSTROPHY, OCRL, business

    وصف الملف: application/pdf