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المؤلفون: Sara E. Mole, Uma Chandrachud, Elisabeth S. Butz, Susan L. Cotman
المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1866:165571
مصطلحات موضوعية: 0301 basic medicine, Batten disease, Membrane Proteins, Genomics, Disease, Gene mutation, Biology, medicine.disease, Phenotype, Lipofuscin, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, Mutation, Lysosomal storage disease, medicine, Animals, Humans, Molecular Medicine, Neuronal ceroid lipofuscinosis, Molecular Biology, Neuroscience, 030217 neurology & neurosurgery, Oligonucleotide Array Sequence Analysis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016e64ad262451cc97c8d4888067baa2Test
https://doi.org/10.1016/j.bbadis.2019.165571Test -
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المؤلفون: Sara E. Mole, Susan L. Cotman
المصدر: Biochimica et biophysica acta. 1852(10 Pt)
مصطلحات موضوعية: Batten disease, KCTD7, Biology, engineering.material, Article, 03 medical and health sciences, 0302 clinical medicine, Batten, medicine, Kufs disease, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, NCL, medicine.disease, Phenotype, 3. Good health, Neuronal ceroid lipofuscinosis, CLN3, CLN8, engineering, Molecular Medicine, CLN, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d55dd7d2c9ad552813d1ffd9e66622Test
https://pubmed.ncbi.nlm.nih.gov/26026925Test -
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المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 50 (2012)
BMC Medical Geneticsمصطلحات موضوعية: Proband, Heterozygote, Mitochondrial DNA, lcsh:Internal medicine, Batten disease, lcsh:QH426-470, Case Report, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, DNA, Mitochondrial, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neuronal Ceroid-Lipofuscinoses, medicine, Genetics, Humans, Genetics(clinical), Oxidative phosphorylation, lcsh:RC31-1245, Genetics (clinical), 030304 developmental biology, Membrane Potential, Mitochondrial, Comparative Genomic Hybridization, 0303 health sciences, Mutation, mtDNA depletion, Neurodegeneration, Infant, Newborn, Lysosome-Associated Membrane Glycoproteins, Membrane Proteins, CLN5, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Human genetics, DNA Polymerase gamma, 3. Good health, Neuronal ceroid lipofuscinosis, lcsh:Genetics, Phenotype, chemistry, POLG1, Penetrant (biochemical), 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::476d58e1eeeb65e9a647c03ed0b54428Test
http://www.biomedcentral.com/1471-2350/13/50Test