المؤلفون: Mofakham, Sima, Cheng, Xi, Cleri, Nathaniel, Saadon, Jordan Raphael, Wang, Cassie, Kleyner, Robert, Zheng, Xuwen, Swarna, Sujith, Forohar, Ariana, Mikell, Charles B.

المصدر: Neurosurgery ; volume 70, issue Supplement_1, page 64-65 ; ISSN 0148-396X 1524-4040

الإتاحة: https://doi.org/10.1227/neu.0000000000002809_237Test

المؤلفون: Cleri, Nathaniel A., Saadon, Jordan R., Xuwen Zheng, Swarna, Sujith A., Zhang, Jason, Vagal, Vaibhav, Wang, Cassie, Kleyner, Robert S., Mikell, Charles B., Mofakham, Sima

المصدر: Journal of Neurosurgery; Dec2023, Vol. 139 Issue 6, p1523-1533, 11p

المؤلفون: Kleyner, Robert, Ung, Nathaniel, Arif, Mohammad, Marchi, Elaine, Amble, Karen, Gavin, Maureen, Madrid, Ricardo, Lyon, Gholson

المصدر: Cold Spring Harbor Molecular Case Studies; Dec2023, Vol. 9 Issue 4, p1-14, 14p

مصطلحات موضوعية: ENDOPLASMIC reticulum, GERM cells, ATAXIA, MISSENSE mutation, PATHOGENESIS

المؤلفون: Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Lupski, James R.

مصطلحات موضوعية: Intellectual Disability, De-Novo, Common-Cause, Mutations, Identification, Protein, Variants, Mutants, Nmd

العلاقة: American Journal of Human Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1016/j.ajhg.2019.06.001Test; https://hdl.handle.net/20.500.11776/6047Test; 105; 302; 316; WOS:000478022200006; 2-s2.0-85069846729

الإتاحة: https://doi.org/20.500.11776/6047Test
https://doi.org/10.1016/j.ajhg.2019.06.001Test
https://hdl.handle.net/20.500.11776/6047Test

المؤلفون: Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert

المساهمون: US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI), Health Innovation Challenge Fund, Wellcome Trust, Department of Health, Wellcome Trust Sanger Institute, LB692 Nebraska Tobacco Settlement Biomedical Research Development Program, NHGRI, Simons Foundation Autism Research Initiative (SFARI, National Institutes of Health, NIH/NHGRI, Research Council of Norway, Norwegian Cancer Society, Norwegian Health Authorities of Western Norway, Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory

المصدر: The American Journal of Human Genetics ; volume 102, issue 5, page 985-994 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.03.004Test
https://api.elsevier.com/content/article/PII:S0002929718300934?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929718300934?httpAccept=text/plainTest

المؤلفون: Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M. S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J.

المساهمون: Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Correction, Phenotype, NatA complex, NAA15

وصف الملف: application/pdf

العلاقة: Human Molecular Genetics; Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F., … Lyon, G. J. (2020). Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human molecular genetics, 29(5), 877–878. https://doi.org/10.1093/hmg/ddz173Test; https://hdl.handle.net/1805/22989Test

الإتاحة: https://doi.org/10.1093/hmg/ddz173Test
https://hdl.handle.net/1805/22989Test

المؤلفون: Kleyner, Robert, Arif, Mohammad, Marchi, Elaine, Horowitz, Naomi, Haworth, Andrea, King, Brian, Gavin, Maureen, Amble, Karen, Velinov, Milen, Lyon, Gholson J.

المصدر: Cold Spring Harbor Molecular Case Studies; Feb2022, Vol. 8 Issue 2, p1-10, 10p

مصطلحات موضوعية: MITOCHONDRIA, ALLELES, GENETICS, QUANTITATIVE research, STATISTICS

المؤلفون: Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M.S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J.

وصف الملف: text

العلاقة: https://eprints.soton.ac.uk/433941/1/NAA10_NAA15_HMG_2019_missense_mutations_Final_Published_paper.pdfTest; Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F., Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S., Toribio, Janet, Mena, Rafael, Prada, Carlos E., Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R. Frank, Baralle, Diana, Mancini, Grazia M.S., Conway, Simon J., Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen and Lyon, Gholson J. (2019) Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Human Molecular Genetics, 28 (17), 2900-2919. (doi:10.1093/hmg/ddz111 ).

الإتاحة: https://doi.org/10.1093/hmg/ddz111Test
https://eprints.soton.ac.uk/433941Test/
https://eprints.soton.ac.uk/433941/1/NAA10_NAA15_HMG_2019_missense_mutations_Final_Published_paper.pdfTest

المؤلفون: Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka Zola, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amalia, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Goncalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Guillen Sacoto, Maria J., Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Ades, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.

المصدر: Human Mutation (2019)

مصطلحات موضوعية: Cornelia de Lange, MRXS33 intellectual disability syndrome, TAF1, exome sequencing, transcriptomopathy, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:1059-7794; urn:issn:1098-1004; https://orbi.uliege.be/handle/2268/242429Test; info:hdl:2268/242429; scopus-id:2-s2.0-85075484672; info:pmid:31646703

الإتاحة: https://doi.org/10.1002/humu.23936Test
https://orbi.uliege.be/handle/2268/242429Test

المؤلفون: Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Stefan, Piatek G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne

المصدر: Human Mutation; Feb2020, Vol. 41 Issue 2, p449-464, 16p