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Jump to: 2021 | 2011
Number of items: 2.

2021

Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda, V, Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm and Sanna-Cherchi, Simone (2021). De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am. J. Hum. Genet., 108 (2). S. 357 - 368. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

2011

Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick ORCID: 0000-0002-9673-795X, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Mueller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nuernberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole ORCID: 0000-0003-4626-9809, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A. and Boycott, Kym M. (2011). TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. Am. J. Hum. Genet., 89 (6). S. 713 - 731. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

This list was generated on Fri Sep 30 03:14:40 2022 CEST.