المؤلفون: Morimoto, Marie, Bhambhani, Vikas, Gazzaz, Nour, Davids, Mariska, Sathiyaseelan, Paalini, Macnamara, Ellen F, Lange, Jennifer, Lehman, Anna, Zerfas, Patricia M, Murphy, Jennifer L, Acosta, Maria T, Wang, Camille, Alderman, Emily, Reichert, Sara, Thurm, Audrey, Adams, David R, Introne, Wendy J, Gorski, Sharon M, Boerkoel, Cornelius F, Gahl, William A, Tifft, Cynthia J, Malicdan, May Christine V

المصدر: npj Genomic Medicine. 8(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Clinical Research, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Undiagnosed Diseases Network, Medical biotechnology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1g6176gnTest

المؤلفون: Wang, Xiaoxin X., Myakala, Komuraiah, Libby, Andrew E., Krawczyk, Ewa, Panov, Julia, Jones, Bryce A., Bhasin, Kanchan, Shults, Nataliia, Qi, Yue, Krausz, Kristopher W., Zerfas, Patricia M., Takahashi, Shogo, Daneshpajouhnejad, Parnaz, Titievsky, Avi, Taranenko, Elizaveta, Billon, Cyrielle, Chatterjee, Arindam, Elgendy, Bahaa, Walker, John K., Albanese, Chris, Kopp, Jeffrey B., Rosenberg, Avi Z., Gonzalez, Frank J., Guha, Udayan, Brodsky, Leonid, Burris, Thomas P., Levi, Moshe

المساهمون: NIH, National Institute on Aging, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases, American Heart Association

المصدر: The American Journal of Pathology ; volume 193, issue 12, page 1969-1987 ; ISSN 0002-9440

مصطلحات موضوعية: Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.ajpath.2023.07.008Test
https://api.elsevier.com/content/article/PII:S0002944023003218?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002944023003218?httpAccept=text/plainTest

المؤلفون: Bahn, Young Jae, Yadav, Hariom, Piaggi, Paolo, Abel, Brent S, Gavrilova, Oksana, Springer, Danielle A, Papazoglou, Ioannis, Zerfas, Patricia M, Skarulis, Monica C, McPherron, Alexandra C, Rane, Sushil G

المساهمون: Bahn, Young Jae, Yadav, Hariom, Piaggi, Paolo, Abel, Brent S, Gavrilova, Oksana, Springer, Danielle A, Papazoglou, Ioanni, Zerfas, Patricia M, Skarulis, Monica C, Mcpherron, Alexandra C, Rane, Sushil G

مصطلحات موضوعية: Metabolism, Mitochondria, Muscle Biology, Skeletal muscle

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37395281; info:eu-repo/semantics/altIdentifier/wos/WOS:001037326200002; volume:133; issue:13; firstpage:1; lastpage:18; numberofpages:18; journal:THE JOURNAL OF CLINICAL INVESTIGATION; https://hdl.handle.net/11568/1192727Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163593579; https://www.jci.org/articles/view/162479Test

الإتاحة: https://doi.org/10.1172/JCI162479Test
https://hdl.handle.net/11568/1192727Test
https://www.jci.org/articles/view/162479Test

المؤلفون: Saré, Rachel Michelle, Cooke, Spencer K., Krych, Leland, Zerfas, Patricia M., Cohen, Robert M., Smith, Carolyn Beebe

المساهمون: National Institute of Mental Health, FRAXA Research Foundation

المصدر: Frontiers in Neuroscience ; volume 14 ; ISSN 1662-453X

مصطلحات موضوعية: General Neuroscience

الإتاحة: https://doi.org/10.3389/fnins.2020.00601Test

المؤلفون: Jestin, Maxim, Kapnick, Senta M., Tarasenko, Tatyana N., Burke, Cassidy T., Zerfas, Patricia M., Diaz, Francisca, Vernon, Hilary, Singh, Larry N., Sokol, Ronald J., McGuire, Peter J.

المساهمون: Animal Core Facility at NHGRI, Intramural Research Program of the National Institutes of Health

المصدر: Molecular Metabolism ; volume 37, page 100981 ; ISSN 2212-8778

مصطلحات موضوعية: Cell Biology, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.molmet.2020.100981Test
https://api.elsevier.com/content/article/PII:S2212877820300557?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2212877820300557?httpAccept=text/plainTest

المؤلفون: Nicoli, Elena-Raluca, Weston, Mary R., Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih M., Baker, Peter R., Burke, John Douglas, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, David R., Zerfas, Patricia M., Chen, Dong, Markello, Thomas C., Toro, Camilo, Wood, Tim, Elliott, Gene, Vu, Mylinh, Zheng, Wei, Garrett, Lisa J., Tifft, Cynthia J., Gahl, William A., Day-Salvatore, Debra L., Mindell, Joseph A., Malicdan, May Christine V., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Beggs, Alan H., Bejerano, Gill, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna

المساهمون: National Institute of Neurological Disorders and Stroke

المصدر: The American Journal of Human Genetics ; volume 104, issue 6, page 1127-1138 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.04.008Test
https://api.elsevier.com/content/article/PII:S0002929719301545?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929719301545?httpAccept=text/plainTest

المؤلفون: Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steindl, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, Lee, Hane, Garrett, Lisa. J., Yokoyama, Tadafumi, Balanda, Nicholas, Bodine, Steven P., Tolman, Nathanial J., Zerfas, Patricia M., Zheng, Allison, Ramantani, Georgia, Girisha, Katta M., Rivas, Cecilia, Suresh, Pujar V., Elkahloun, Abdel, Alsaif, Hessa S., Wakil, Salma M., Mahmoud, Laila, Ali, Rehab, Prochazkova, Michaela, Kulkarni, Ashok B., Ben-Omran, Tawfeg, Colak, Dilek, Morris, H. Douglas, Rauch, Anita, Martinez-Agosto, Julian A., Nelson, Stanley F., Alkuraya, Fowzan S., Gahl, William A., Malicdan, May Christine V.

المصدر: The American Journal of Human Genetics ; volume 103, issue 6, page 948-967 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.11.001Test
https://api.elsevier.com/content/article/PII:S000292971830404X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S000292971830404X?httpAccept=text/plainTest

المؤلفون: Haddad, Marie Reine, Choi, Eun-Young, Zerfas, Patricia M., Yi, Ling, Martinelli, Diego, Sullivan, Patricia, Goldstein, David S., Centeno, Jose A., Brinster, Lauren R., Ralle, Martina, Kaler, Stephen G.

المساهمون: National Institutes of Health, Basic Energy Sciences, U.S. Department of Energy, Office of Science

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 10, page 165-178 ; ISSN 2329-0501

الإتاحة: https://doi.org/10.1016/j.omtm.2018.07.002Test
https://api.elsevier.com/content/article/PII:S2329050118300652?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2329050118300652?httpAccept=text/plainTest

المؤلفون: Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2013 Aug . 110(33), 13552-13557.

الوصول الحر: https://www.jstor.org/stable/42712945Test

المؤلفون: Li, Huiqing, Pei, Wuhong, Vergarajauregui, Sivia, Zerfas, Patricia M., Raben, Nina, Burgess, Shawn M., Puertollano, Rosa

المساهمون: National Institutes of Health

المصدر: Human Molecular Genetics ; volume 26, issue 14, page 2701-2718 ; ISSN 0964-6906 1460-2083

الإتاحة: https://doi.org/10.1093/hmg/ddx158Test
http://academic.oup.com/hmg/article-pdf/26/14/2701/24340262/ddx158.pdfTest