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1دورية أكاديمية
المؤلفون: Oliveira, J, Gruber, A, Cardoso, M, Taipa, R, Fineza, I, Gonçalves, A, Laner, A, Winder, TL, Schroeder, J, Rath, J, Oliveira, ME, Vieira, E, Sousa, AP, Vieira, JP, Lourenço, T, Almendra, L, Negrão, L, Santos, M, Melo-Pires, M, Coelho, T, den Dunnen, JT, Santos, R, Sousa, M
مصطلحات موضوعية: Alleles, Biomarkers, Brain, Computational Biology, Databases, Nucleic Acid, Gene Frequency, Genetic Variation, Genotype, Humans, Immunohistochemistry, Laminin, Magnetic Resonance Imaging, Muscular Dystrophies, Genetic Association Studies, Mutation, Phenotype, HDE GEN, HDE NEU PED
العلاقة: Hum Mutat . 2018 Oct;39(10):1314-1337; http://hdl.handle.net/10400.17/3495Test
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2دورية أكاديمية
المؤلفون: Logan, CV, Szabadkai, G, Sharpe, JA, Parry, DA, Torelli, S, Childs, AM, Kriek, M, Phadke, R, Johnson, CA, Roberts, NY, Bonthron, DT, Pysden, KA, Whyte, T, Munteanu, I, Foley, AR, Wheway, G, Szymanska, K, Natarajan, S, Abdelhamed, ZA, Morgan, JE, Roper, H, Santen, GW, Niks, EH, van der Pol, WL, Lindhout, D, Raffaello, A, De Stefani, D, den Dunnen, JT, Sun, Y, Ginjaar, I, Sewry, CA, Hurles, M, Rizzuto, R, UK10K Consortium, Duchen, MR, Muntoni, F, Sheridan, E
المصدر: Nature Genetics , 46 (2) pp. 188-193. (2014)
مصطلحات موضوعية: Analysis of Variance, Base Sequence, Calcium Channels, Calcium Signaling, Calcium-Binding Proteins, Cation Transport Proteins, DNA, Complementary, Exome, Extrapyramidal Tracts, Fluorescent Antibody Technique, Histological Techniques, Humans, Immunohistochemistry, Learning Disorders, Membrane Potential, Mitochondrial, Mitochondria, Mitochondrial Membrane Transport Proteins, Molecular Sequence Data, Movement Disorders, Muscular Diseases, Pedigree, Phenotype, Polymorphism, Single Nucleotide, Quadriceps Muscle, Real-Time Polymerase Chain Reaction, Sequence Analysis
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1417546/1/Duchen_Logan%20et%20al%20final%20subitted%20NG.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1417546Test/
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المؤلفون: Cotton, RGH, Auerbach, AD, Brown, AF, Carrera, P, Christodoulou, J, Claustre, M, Compton, J, Cox, DW, De Baere, Elfride, den Dunnen, JT, Greenblatt, M, Fujiwara, M, Hilbert, P, Jani, A, Lehvaslaiho, H, Nebert, DW, Verma, I, Vihinen, M
المصدر: HUMAN MUTATION ; ISSN: 1059-7794
مصطلحات موضوعية: Biology and Life Sciences, mutation, variome, recommendations, genotype, phenotype
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/2054844Test; http://hdl.handle.net/1854/LU-2054844Test; http://dx.doi.org/10.1002/humu.20631Test; https://biblio.ugent.be/publication/2054844/file/2054888Test
الإتاحة: https://doi.org/10.1002/humu.20631Test
https://biblio.ugent.be/publication/2054844Test
http://hdl.handle.net/1854/LU-2054844Test
https://biblio.ugent.be/publication/2054844/file/2054888Test
