المؤلفون: Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

المصدر: Human Mutation. 41(11):1979-1998

مصطلحات موضوعية: chromosomal inversions, nonallelic homologous recombination, nonhomologous end-joining, recombinant chromosomes, replication-based repair mechanisms, whole-genome sequencing

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-170533Test
https://liu.diva-portal.org/smash/get/diva2:1476992/FULLTEXT01.pdfTest

المؤلفون: Mucha, Bettina E, Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G, Koenig, Mary Kay, Adejumo, Rhamat B, Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G, Waxler, Jessica L, Thomas, Mary Ann, Hodge, Jennelle C, Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M, Sanlaville, Damien, Cheung, Sau W, Ernst, Carl, Campeau, Philippe M

المصدر: Mucha , B E , Banka , S , Ajeawung , N F , Molidperee , S , Chen , G G , Koenig , M K , Adejumo , R B , Till , M , Harbord , M , Perrier , R , Lemyre , E , Boucher , R-M , Skotko , B G , Waxler , J L , Thomas , M A , Hodge , J C , Gecz , J , Nicholl , J , McGregor , L , Linden , T , Sisodiya , S M , Sanlaville , D , Cheung ....

مصطلحات موضوعية: 16p13.3, Epilepsy, Microcephaly, Microdeletion, TBC1D24

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41436-018-0290-3Test
https://research.manchester.ac.uk/en/publications/d3a328f0-9f56-4664-a4ce-7bb2e3f9bce8Test
https://pure.manchester.ac.uk/ws/files/87640560/GIM_D_18_00378_R2_clean.pdfTest
http://www.scopus.com/inward/record.url?scp=85053686625&partnerID=8YFLogxKTest
http://www.mendeley.com/research/new-microdeletion-syndrome-involving-tbc1d24-atp6v0c-pdpk1-causes-epilepsy-microcephaly-developmentaTest
http://discovery.ucl.ac.uk/10057682Test/

المؤلفون: Mucha, Bettina E., Banka, Siddharth, Ajeawung, Norbert Fonya, Molidperee, Sirinart, Chen, Gary G., Koenig, Mary Kay, Adejumo, Rhamat B., Till, Marianne, Harbord, Michael, Perrier, Renee, Lemyre, Emmanuelle, Boucher, Renee-Myriam, Skotko, Brian G., Waxler, Jessica L., Thomas, Mary Ann, Hodge, Jennelle C., Gecz, Jozef, Nicholl, Jillian, McGregor, Lesley, Linden, Tobias, Sisodiya, Sanjay M., Sanlaville, Damien, Cheung, Sau W., Ernst, Carl, Campeau, Philippe M.

المصدر: Genetics in Medicine ; volume 21, issue 9, page 2159-2160 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-018-0413-xTest
http://www.nature.com/articles/s41436-018-0413-xTest
http://www.nature.com/articles/s41436-018-0413-x.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021049881?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021049881?httpAccept=text/plainTest

المؤلفون: Gennarino, Vincenzo A, Alcott, Callison E, Chen, Chun-An, Chaudhury, Arindam, Gillentine, Madelyn A, Rosenfeld, Jill A, Parikh, Sumit, Wheless, James W, Roeder, Elizabeth R, Horovitz, Dafne DG, Roney, Erin K, Smith, Janice L, Cheung, Sau W, Li, Wei, Neilson, Joel R, Schaaf, Christian P, Zoghbi, Huda Y

المساهمون: Howard Hughes Medical Institute (HHMI), National Institutes of Health (NIH), Baylor College of Medicine IDDRC, Rett Syndrome Research Trust, Joan and Stanford Alexander Family

المصدر: eLife ; volume 4 ; ISSN 2050-084X

الإتاحة: https://doi.org/10.7554/elife.10782Test
https://cdn.elifesciences.org/articles/10782/elife-10782-v3.pdfTest
https://cdn.elifesciences.org/articles/10782/elife-10782-v3.xmlTest
https://elifesciences.org/articles/10782Test

المؤلفون: Peddibhotla, Sirisha, Nagamani, Sandesh CS, Erez, Ayelet, Hunter, Jill V, Holder Jr, J Lloyd, Carlin, Mary E, Bader, Patricia I, Perras, Helene MF, Allanson, Judith E, Newman, Leslie, Simpson, Gayle, Immken, LaDonna, Powell, Erin, Mohanty, Aaron, Kang, Sung-Hae L, Stankiewicz, Pawel, Bacino, Carlos A, Bi, Weimin, Patel, Ankita, Cheung, Sau W

المصدر: European Journal of Human Genetics ; volume 23, issue 1, page 54-60 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.51Test
http://www.nature.com/articles/ejhg201451.pdfTest
http://www.nature.com/articles/ejhg201451Test

المؤلفون: Jorgez, Carolina J., Rosenfeld, Jill A., Wilken, Nathan R., Vangapandu, Hima V., Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M. B., Bandholz, Anne, Miller, Amanda, Weaver, David D., Burton, Barbara, Babu, Deepti, Bamforth, John S., Wilks, Timothy, Flynn, Daniel P., Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W., Lupski, James R., Lamb, Dolores J.

المساهمون: Real, Francisco X.

المصدر: PLoS ONE ; volume 9, issue 9, page e107028 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0107028Test

المؤلفون: Lalani, Seema R., Ware, Stephanie M., Wang, Xueqing, Zapata, Gladys, Tian, Qi, Franco, Luis M., Jiang, Zhengxin, Bucasas, Kristine, Scott, Daryl A., Campeau, Philippe M., Hanchard, Neil, Umaña, Luis, Cast, Ashley, Patel, Ankita, Cheung, Sau W., McBride, Kim L., Bray, Molly, Craig Chinault, A., Boggs, Barbara A., Huang, Miao, Baker, Mariah R., Hamilton, Susan, Towbin, Jeff, Jefferies, John L., Fernbach, Susan D., Potocki, Lorraine, Belmont, John W.

المصدر: Human Molecular Genetics ; volume 22, issue 21, page 4339-4348 ; ISSN 1460-2083 0964-6906

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

الإتاحة: https://doi.org/10.1093/hmg/ddt283Test
http://academic.oup.com/hmg/article-pdf/22/21/4339/14139599/ddt283.pdfTest

المؤلفون: Wiszniewski, Wojciech, Hunter, Jill V., Hanchard, Neil A., Willer, Jason R., Shaw, Chad, Tian, Qi, Illner, Anna, Wang, Xueqing, Cheung, Sau W., Patel, Ankita, Campbell, Ian M., Gelowani, Violet, Hixson, Patricia, Ester, Audrey R., Azamian, Mahshid S., Potocki, Lorraine, Zapata, Gladys, Hernandez, Patricia P., Ramocki, Melissa B., Santos-Cortez, Regie L.P., Wang, Gao, York, Michele K., Justice, Monica J., Chu, Zili D., Bader, Patricia I., Omo-Griffith, Lisa, Madduri, Nirupama S., Scharer, Gunter, Crawford, Heather P., Yanatatsaneejit, Pattamawadee, Eifert, Anna, Kerr, Jeffery, Bacino, Carlos A., Franklin, Adiaha I.A., Goin-Kochel, Robin P., Simpson, Gayle, Immken, Ladonna, Haque, Muhammad E., Stosic, Marija, Williams, Misti D., Morgan, Thomas M., Pruthi, Sumit, Omary, Reed, Boyadjiev, Simeon A., Win, Kay K., Thida, Aye, Hurles, Matthew, Hibberd, Martin Lloyd, Khor, Chiea Chuen, Van Vinh Chau, Nguyen

المصدر: The American Journal of Human Genetics ; volume 93, issue 2, page 197-210 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2013.05.027Test
https://api.elsevier.com/content/article/PII:S0002929713002693?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929713002693?httpAccept=text/xmlTest

المؤلفون: Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tartaglia, Nicole R, Evans, Patricia, Campbell, William M, Chun-Hui Tsai, Anne, Parsley, Lea, Grayson, Stephanie W, Scheuerle, Angela, Luzzi, Carol D, Thomas, Sandra K, Eng, Patricia A, Kang, Sung-Hae L, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau W

المصدر: European Journal of Human Genetics ; volume 20, issue 12, page 1240-1247 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2012.95Test
http://www.nature.com/articles/ejhg201295.pdfTest
http://www.nature.com/articles/ejhg201295Test

المؤلفون: Ou, Zhishuo, Stankiewicz, Pawel, Xia, Zhilian, Breman, Amy M., Dawson, Brian, Wiszniewska, Joanna, Szafranski, Przemyslaw, Cooper, M. Lance, Rao, Mitchell, Shao, Lina, South, Sarah T., Coleman, Karlene, Fernhoff, Paul M., Deray, Marcel J., Rosengren, Sally, Roeder, Elizabeth R., Enciso, Victoria B., Chinault, A. Craig, Patel, Ankita, Kang, Sung-Hae L., Shaw, Chad A., Lupski, James R., Cheung, Sau W.

مصطلحات موضوعية: RESEARCH

وصف الملف: text/html

العلاقة: http://genome.cshlp.org/cgi/content/short/21/1/33Test; http://dx.doi.org/10.1101/gr.111609.110Test

الإتاحة: https://doi.org/10.1101/gr.111609.110Test
http://genome.cshlp.org/cgi/content/short/21/1/33Test