المؤلفون: Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, H., Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, A., Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, E., Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, M., Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, S., Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, R., Falk, Marni J., McCormick, Elizabeth M., Timmers, H. T.Marc, van Hasselt, Peter M.

المصدر: Haijes , H A , Koster , M J E , Rehmann , H , Li , D , Hakonarson , H , Cappuccio , G , Hancarova , M , Lehalle , D , Reardon , W , Schaefer , G B , Lehman , A , van de Laar , I M B H , Tesselaar , C D , Turner , C , Goldenberg , A , Patrier , S , Thevenon , J , Pinelli , M , Brunetti-Pierri , N , Prchalová , D , Havlovicová , M , Vlckova , M , Sedláček ....

مصطلحات موضوعية: de novo variants, desert regions, desert Z score, dominant-negative effect, haplo-insufficiency, infantile-onset hypotonia, neurodevelopmental syndrome, POLR2A, RNA polymerase II complex, RPB1

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/b9e06ef0-4075-4f2b-8563-0d8e9944967fTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.06.016Test
https://portal.findresearcher.sdu.dk/da/publications/b9e06ef0-4075-4f2b-8563-0d8e9944967fTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6699192/pdf/main.pdfTest

المؤلفون: Coranne D. Tesselaar, Usha Kini, Vandana Shashi, Willie Reardon, H. T. Marc Timmers, Donna M. Martin, Jenny C. Taylor, Dong Li, Elizabeth M. McCormick, Alice Goldenberg, Marketa Havlovicova, Peter M. van Hasselt, Harmjan R. Vos, Maria J.E. Koster, Daphné Lehalle, Sophie Patrier, Elena Lopez, Rolph Pfundt, Richard F.M.A. van Schaik, Koen L.I. van Gassen, Gerarda Cappuccio, Julien Thevenon, Clesson Turner, Ingrid M.B.H. van de Laar, Marni J. Falk, Marketa Vlckova, Vassilis Ragoussis, Robert M. van Es, Nicola Brunetti-Pierri, Michele Pinelli, Alistair T. Pagnamenta, Christina Fagerberg, Darina Prchalova, Slavé Petrovski, Anna Lehman, Hakon Hakonarson, Ton van Essen, Maria Kibaek, Hanneke A. Haijes, G. Bradley Schaefer, Miroslava Hancarova, Jennifer A. Sullivan, Sedlácek Z, Holger Rehmann

المساهمون: Clinical Genetics, Haijes, Hanneke A, Koster, Maria J E, Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G Bradley, Lehman, Anna, van de Laar, Ingrid M B H, Tesselaar, Coranne D, Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassili, Pagnamenta, Alistair T, Kini, Usha, Vos, Harmjan R, van Es, Robert M, van Schaik, Richard F M A, van Essen, Ton A J, Kibaek, Maria, Taylor, Jenny C, Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M, van Gassen, Koen L I, Pfundt, Rolph, Falk, Marni J, Mccormick, Elizabeth M, Timmers, H T Marc, van Hasselt, Peter M

المصدر: American Journal of Human Genetics, 105, 283-301
American Journal of Human Genetics, 105, 2, pp. 283-301
American Journal of Human Genetics, 105(2), 283-301. Cell Press
American Journal of Human Genetics, 105(2), 283. Cell Press
Haijes, H A, Koster, M J E, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, van de Laar, I M B H, Tesselaar, C D, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, A T, Kini, U, Vos, H R, van Es, R M, van Schaik, R F M A, van Essen, T A J, Kibaek, M, Taylor, J C, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, D M, van Gassen, K L I, Pfundt, R, Falk, M J, McCormick, E M, Timmers, H T M & van Hasselt, P M 2019, ' De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia ', American Journal of Human Genetics, vol. 105, no. 2, pp. 283-301 . https://doi.org/10.1016/j.ajhg.2019.06.016Test
American Journal of Human Genetics, 105(2), 283-301. CELL PRESS

مصطلحات موضوعية: Male, Muscle Hypotonia, POLR2A, PROTEIN, RNA polymerase II, ELONGATION COMPLEX, INITIATION, 0302 clinical medicine, infantile-onset hypotonia, Transcription (biology), PROGRAM, Missense mutation, Genetics(clinical), TRANSCRIPTION, Age of Onset, Child, MUTATION, de novo variants, Genetics (clinical), RNA polymerase II complex, Genetics, 0303 health sciences, haplo-insufficiency, DNA-Directed RNA Polymerases, dominant-negative effect, Hypotonia, Phenotype, Child, Preschool, Female, medicine.symptom, LARGEST SUBUNIT, STRUCTURAL BASIS, Heterozygote, Adolescent, RNA-POLYMERASE-II, Saccharomyces cerevisiae, Biology, Article, RPB1, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, desert Z score, medicine, Humans, CELL-CYCLE, Allele, Gene, 030304 developmental biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], neurodevelopmental syndrome, Neurodevelopmental Disorders, biology.protein, desert regions, de novo variant, desert region, 030217 neurology & neurosurgery, HeLa Cells

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0f4cd55fa3c8a36c6f53d61e8bd024fTest
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/206057Test