نتائج البحث - "Shulin Na Zhang"

المساهمون: Neurology, Pathology, Amsterdam Neuroscience - Neurodegeneration, Minikel, Eric Vallabh, Vallabh, Sonia M., Lek, Monkol, Estrada, Karol, Samocha, Kaitlin E., Sathirapongsasuti, J. Fah, Mclean, Cory Y., Tung, Joyce Y., Yu, Linda P. C., Gambetti, Pierluigi, Blevins, Jani, Zhang, Shulin, Cohen, Yvonne, Chen, Wei, Yamada, Masahito, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Mizusawa, Hidehiro, Nakamura, Yosikazu, Kitamoto, Tetsuyuki, Collins, Steven J., Boyd, Alison, Will, Robert G., Knight, Richard, Ponto, Claudia, Zerr, Inga, Kraus, Theo F.J., Eigenbrod, Sabina, Giese, Armin, Calero, Miguel, De Pedro-Cuesta, Jesú, Haïk, Stéphane, Laplanche, Jean-Loui, Bouaziz-Amar, Elodie, Brandel, Jean-Philippe, Capellari, Sabina, Parchi, Piero, Poleggi, Anna, Ladogana, Anna, O'Donnell-Luria, Anne H., Karczewski, Konrad J., Marshall, Jamie L., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Kähler, Anna, Chambert, Kimberly, Mccarroll, Steven, Sullivan, Patrick F., Hultman, Christina M., Purcell, Shaun M., Sklar, Pamela, Van Der Lee, Sven J., Rozemuller, Annemieke, Jansen, Casper, Hofman, Albert, Kraaij, Robert, Van Rooij, Jeroen G. J., Ikram, M. Arfan, Uitterlinden, André G., Van Duijn, Cornelia M., Daly, Mark J., Macarthur, Daniel G., Epidemiology, Internal Medicine

المصدر: Science Translational Medicine, 8(322):322ra9. American Association for the Advancement of Science
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169

مصطلحات موضوعية: 0301 basic medicine, PROTEIN GENE MUTATION, CREUTZFELDT-JAKOB-DISEASE, animal diseases, Penetrance, Disease, Research & Experimental Medicine, R208H MUTATION, Prion Diseases, Cohort Studies, STRAUSSLER-SCHEINKER-DISEASE, 0302 clinical medicine, Risk Factors, Genotype, Exome sequencing, Genetics, education.field_of_study, FATAL FAMILIAL INSOMNIA, General Medicine, 11 Medical And Health Sciences, 3. Good health, Medicine, Research & Experimental, UNCOMMON POLYMORPHISM RATHER, Life Sciences & Biomedicine, Prions, Population, Biology, AMYLOID PRECURSOR GENE, PRNP GENE, PRNP, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Allele, TRANSGENIC MOUSE MODEL, education, Fatal familial insomnia, Science & Technology, Exome Aggregation Consortium (ExAC), Cell Biology, 06 Biological Sciences, medicine.disease, POINT MUTATION, nervous system diseases, 030104 developmental biology, Case-Control Studies, Mutation, 030217 neurology & neurosurgery