المؤلفون: Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M.Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.

المصدر: Genetics in Medicine ; volume 20, issue 11, page 1354-1364 ; ISSN 1098-3600

الإتاحة: https://doi.org/10.1038/gim.2018.8Test
http://www.nature.com/articles/gim20188Test
http://www.nature.com/articles/gim20188.pdfTest
https://api.elsevier.com/content/article/PII:S1098360021025971?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021025971?httpAccept=text/plainTest

المؤلفون: Di Donato, Nataliya, Jean, Ying Y, Maga, A Murat, Krewson, Briana D, Shupp, Alison B, Avrutsky, Maria I, Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A, Czaja, Agnieszka M, Johnson, Rachel, Stover, Jessi A, Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A, Mirzaa, Ghayda M, Nissen, Anke, Brigatti, Karlla W, Puffenberger, Erik G, Millen, Kathleen J, Strauss, Kevin A, Dobyns, William B, Troy, Carol M, Jinks, Robert N

المصدر: Di Donato, Nataliya; Jean, Ying Y; Maga, A Murat; Krewson, Briana D; Shupp, Alison B; Avrutsky, Maria I; Roy, Achira; Collins, Sarah; Olds, Carissa; Willert, Rebecca A; Czaja, Agnieszka M; Johnson, Rachel; Stover, Jessi A; Gottlieb, Steven; Bartholdi, Deborah; Rauch, Anita; Goldstein, Amy; Boyd-Kyle, Victoria; Aldinger, Kimberly A; Mirzaa, Ghayda M; Nissen, Anke; Brigatti, Karlla W; Puffenberger, Erik G; Millen, Kathleen J; Strauss, Kevin A; Dobyns, William B; Troy, Carol M; Jinks, Robert N (2016). Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant. American Journal of Human Genetics, 99(5):1117-1129.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/133429/1/Di_Donato_et_al,_Mutations_in_CRADDS_Result_in.pdfTest; info:pmid/27773430; urn:issn:0002-9297

الإتاحة: https://doi.org/10.5167/uzh-13342910.1016/j.ajhg.2016.09.010Test
https://www.zora.uzh.ch/id/eprint/133429Test/
https://www.zora.uzh.ch/id/eprint/133429/1/Di_Donato_et_al,_Mutations_in_CRADDS_Result_in.pdfTest

المؤلفون: Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Steve, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, Mckinnon, Margaret, Addor, Marie-claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, Dobyns, William B.

المصدر: JCI Insight

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/192076/1/48476383.pdfTest; Mirzaa, Ghayda, Timms, Andrew E., Conti, Valerio, Boyle, Evan August, Girisha, Katta M., Martin, Beth, Kircher, Martin, Olds, Carissa, Juusola, Jane, Collins, Sarah, Park, Kaylee, Carter, Melissa, Glass, Ian, Krägeloh-mann, Inge, Chitayat, David, Parikh, Aditi Shah, Bradshaw, Rachael, Torti, Erin, Braddock, Steve, Burke, Leah, Ghedia, Sondhya, Stephan, Mark, Stewart, Fiona, Prasad, Chitra, Napier, Melanie, Saitta, Sulagna, Straussberg, Rachel, Gabbett, Michael, O’Connor, Bridget C., Keegan, Catherine E., Yin, Lim Jiin, Lai, Angeline Hwei Meeng, Martin, Nicole, Mckinnon, Margaret, Addor, Marie-claude, Boccuto, Luigi, Schwartz, Charles E., Lanoel, Agustina, Conway, Robert L., Devriendt, Koenraad, Tatton-Brown, Katrina, Pierpont, Mary Ella, Painter, Michael, Worgan, Lisa, Reggin, James, Hennekam, Raoul, Tsuchiya, Karen, Pritchard, Colin C., Aracena, Mariana, Gripp, Karen W., Cordisco, Maria, Van Esch, Hilde, Garavelli, Livia, Curry, Cynthia, Goriely, Anne, Kayserilli, Hulya, Shendure, Jay, Graham, John, Guerrini, Renzo, & Dobyns, William B. (2016) PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight, 1(9), Article number: e87623 1-18.; https://eprints.qut.edu.au/192076Test/; Faculty of Health

الإتاحة: https://doi.org/10.1172/jci.insight.87623Test
https://eprints.qut.edu.au/192076Test/

المؤلفون: Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton P., Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Olds, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra L., Girisha, Katta M., Yeung, Kit-San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca J., Mahan, Scott, Liu, Shanming, Weaver, Molly, Dorschner, Michael O., Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael P., Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.

المصدر: JAMA Neurology ; volume 73, issue 7, page 836 ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2016.0363Test
http://jamanetwork.com/journals/jamaneurology/fullarticle/2519874Test

المؤلفون: Mirzaa, Ghayda M., Conti, Valerio, Timms, Andrew E., Smyser, Christopher D., Ahmed, Sarah, Carter, Melissa, Barnett, Sarah, Hufnagel, Robert B., Goldstein, Amy, Narumi-Kishimoto, Yoko, Olds, Carissa, Collins, Sarah, Johnston, Kathreen, Deleuze, Jean-François, Nitschké, Patrick, Friend, Kathryn, Harris, Catharine, Goetsch, Allison, Martin, Beth, Boyle, Evan August, Parrini, Elena, Mei, Davide, Tattini, Lorenzo, Slavotinek, Anne, Blair, Ed, Barnett, Christopher, Shendure, Jay, Chelly, Jamel, Dobyns, William B., Guerrini, Renzo

العلاقة: https://zenodo.org/record/889954Test; https://doi.org/10.1016/s1474-4422Test(15)00278-1; oai:zenodo.org:889954

الإتاحة: https://doi.org/10.1016/s1474-4422Test(15)00278-1
https://zenodo.org/record/889954Test

المؤلفون: Di Donato, Nataliya, Chiari, Sara, Mirzaa, Ghayda M., Aldinger, Kimberly, Parrini, Elena, Olds, Carissa, Barkovich, A. James, Guerrini, Renzo, Dobyns, William B.

المساهمون: Seventh Framework Programme, Deutsche Forschungsgemeinschaft, National Institute of Neurological Disorders and Stroke, National Institutes of Health

المصدر: American Journal of Medical Genetics Part A ; volume 173, issue 6, page 1473-1488 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.38245Test

المؤلفون: Di Donato, Nataliya, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas, Dobyns, William B.

مصطلحات موضوعية: ddc:no

العلاقة: Di Donato, Nataliya orcid:0000-0001-9439-4677 , Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas orcid:0000-0001-7116-6364 and Dobyns, William B. (2016). Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am. J. Med. Genet. A, 170 (10). S. 2644 - 2652. HOBOKEN: WILEY. ISSN 1552-4833

الإتاحة: https://kups.ub.uni-koeln.de/26002Test/