المؤلفون: Bazalar-Montoya, Jeny, Rodriguez, Richard, Chávez-Pasco, Giulliana, Martínez-Esteban, Peggy, Rajkumar, Revathi, Kesari, Akanchha, Brown, Carolyn, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda

المصدر: Genetics in Medicine Open ; volume 2, page 101306 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101306Test
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424004527?httpAccept=text/plainTest

المؤلفون: McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Pan, Alves, César Augusto Pinheiro Ferreira, Ardissone, Anna, Bai, Renkui, de Barcelos, Isabella Peixoto, Bertini, Enrico, Bluske, Krista, Christodoulou, John, Clause, Amanda R, Copeland, William C, Diaz, George A, Diodato, Daria, Dulik, Matthew C, Enns, Greg, Feigenbaum, Annette, Fratter, Carl, Ghezzi, Daniele, Goldstein, Amy, Gropman, Andrea, Haas, Richard, Karaa, Amel, Koenig, Mary Kay, Monteleone, Berrin, Parikh, Sumit, Duenas, Belen Perez, Rajkumar, Revathi, Saada, Ann, Saneto, Russell P, Sergeant, Kate, Shoffner, John, Smith, Conrad, Stanley, Christine, Thiffault, Isabelle, Thorburn, David, Walker, Melissa, Wallace, Douglas, Wong, Lee-Jun, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

المصدر: Annals of Neurology (2023) (In press).

مصطلحات موضوعية: NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10175738Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10175738/1/Annals%20of%20Neurology%20-%202023%20-%20McCormick.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10175738Test/

المؤلفون: Clause, Amanda R., Taylor, Julie P., Rajkumar, Revathi, Bluske, Krista, Bennett, Maren, Amendola, Laura M., Bentley, David R., Taft, Ryan J., Perry, Denise L., Coffey, Alison J., Brown, Carolyn, Brown, Matthew P., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Golden-Grant, Katie, Kesari, Akanchha, Malhotra, Alka, Milewski, Becky, Sajan, Samin A., Schlachetzki, Zinayida, Schmidt, Sarah, Thomas, Brittany, Thorpe, Erin

المصدر: Cell Genomics ; volume 3, issue 2, page 100258 ; ISSN 2666-979X

مصطلحات موضوعية: Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous)

الإتاحة: https://doi.org/10.1016/j.xgen.2023.100258Test
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666979X23000149?httpAccept=text/plainTest

المؤلفون: Scocchia, Alicia, Wigby, Kristen M., Masser-Frye, Diane, Del Campo, Miguel, Galarreta, Carolina I., Thorpe, Erin, McEachern, Julia, Robinson, Keisha, Gross, Andrew, Bennett, Maren, Bluske, Krista, Brown, Carolyn M., Buchanan, Amanda, Burns, Brendan, Burns, Nicole J., Chandrasekhar, Anjana, Chawla, Aditi, Clause, Amanda R., Coffey, Alison J., Cremona, Maria Laura, Gainullin, Vlad, Hagelstrom, R. Tanner, Malhotra, Alka, Rajan, Maya, Rajkumar, Revathi, Schmidt, Sarah, Ajay, Subramanian S., Rajan, Vani, Perry, Denise L., Belmont, John W., Bentley, David R., Jones, Marilyn C., Taft, Ryan J.

المصدر: npj Genomic Medicine ; volume 4, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-018-0076-1Test
https://www.nature.com/articles/s41525-018-0076-1.pdfTest
https://www.nature.com/articles/s41525-018-0076-1Test

المؤلفون: Rogers, Natasha M., Yao, Mingyi, Sembrat, John, George, M. Patricia, Knupp, Heather, Ross, Mark, Sharifi-Sanjani, Maryam, Milosevic, Jadranka, St. Croix, Claudette, Rajkumar, Revathi, Frid, Maria G., Hunter, Kendall S., Mazzaro, Luciano, Novelli, Enrico M., Stenmark, Kurt R., Gladwin, Mark T., Ahmad, Ferhaan, Champion, Hunter C., Isenberg, Jeffrey S.

المصدر: Pulmonary Circulation, 2013 Dec 01. 3(4), 936-951.

الوصول الحر: https://www.jstor.org/stable/10.1086/674754Test

المؤلفون: Rajkumar, Revathi, Bhagyalekshmi N., Ramesh M., Pillai, Santhosh R.

المصدر: National Journal of Physiology, Pharmacy & Pharmacology; 2022, Vol. 12 Issue 4, p477-480, 4p

مصطلحات موضوعية: DRUG side effects, PROTON pump inhibitors, PHARMACOLOGY, SCIENTIFIC observation, VENTRICULAR tachycardia

المؤلفون: Rajkumar Revathi, Sembrat John C, McDonough Barbara, Seidman Christine E, Ahmad Ferhaan

المصدر: BMC Medical Genetics, Vol 13, Iss 1, p 21 (2012)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

العلاقة: http://www.biomedcentral.com/1471-2350/13/21Test; https://doaj.org/toc/1471-2350Test; https://doaj.org/article/618901514f3a4f5c938941cabff2964aTest

الإتاحة: https://doi.org/10.1186/1471-2350-13-21Test
https://doaj.org/article/618901514f3a4f5c938941cabff2964aTest

المؤلفون: Rajkumar, Revathi, Sembrat, John C, McDonough, Barbara, Seidman, Christine E, Ahmad, Ferhaan

العلاقة: http://www.biomedcentral.com/1471-2350/13/21Test

الإتاحة: http://www.biomedcentral.com/1471-2350/13/21Test

المؤلفون: Kass, Daniel J., Rattigan, Eileen, Kahloon, Rehan, Loh, Katrina, Yu, Liyang, Savir, Asaf, Markowski, Mark, Saqi, Anjali, Rajkumar, Revathi, Ahmad, Ferhaan, Champion, Hunter C.

المساهمون: Kolb, Martin R. J.

المصدر: PLoS ONE ; volume 7, issue 4, page e35388 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0035388Test

المؤلفون: Rajkumar Revathi, Banerjee Jheelam, Gunturi Hima, Trivedi R, Kashyap VK

المصدر: BMC Evolutionary Biology, Vol 6, Iss 1, p 9 (2006)

مصطلحات موضوعية: Evolution, QH359-425

العلاقة: http://www.biomedcentral.com/1471-2148/6/9Test; https://doaj.org/toc/1471-2148Test; https://doaj.org/article/aea30b8d6e434e88bf44b1ba1b8b2611Test

الإتاحة: https://doi.org/10.1186/1471-2148-6-9Test
https://doaj.org/article/aea30b8d6e434e88bf44b1ba1b8b2611Test