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Number of items: 3.

Journal Article

Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean ORCID: 0000-0002-7682-559X, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar ORCID: 0000-0003-2151-9162, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique and Piton, Amelie ORCID: 0000-0003-0408-7468 (2019). Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation. Am. J. Hum. Genet., 105 (3). S. 509 - 526. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Martin, Carol-Anne ORCID: 0000-0001-5914-2757, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid ORCID: 0000-0002-1353-8809, Bicknell, Louise S., Leitch, Andrea, Nuernberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E., Hunt, David, Khan, Fawad, Ali, Zafar ORCID: 0000-0002-2389-3337, Tinschert, Sigrid, Ding, James ORCID: 0000-0001-7273-9646, Keith, Charlotte, Harley, Margaret E., Heyn, Patricia, Mueller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valerie, Dollfus, Helene, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana ORCID: 0000-0002-8467-4728, Mendoza-Londono, Roberto, Moore, Anthony T., Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmueller, Janine, Hoehne, Wolfgang, Hurles, Matthew E., Noegel, Angelika Anna, Baig, Shahid Mahmood, Nuernberg, Peter and Jackson, Andrew P. (2014). Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nature Genet., 46 (12). S. 1283 - 1293. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

Otto, Edgar A., Hurd, Toby W., Airik, Rannar, Chaki, Moumita, Zhou, Weibin, Stoetzel, Corinne, Patil, Suresh B., Levy, Shawn ORCID: 0000-0002-1369-5740, Ghosh, Amiya K., Murga-Zamalloa, Carlos A., van Reeuwijk, Jeroen ORCID: 0000-0002-0658-4399, Letteboer, Stef J. F., Sang, Liyun, Giles, Rachel H., Liu, Qin, Coene, Karlien L. M., Estrada-Cuzcano, Alejandro ORCID: 0000-0001-9868-2465, Collin, Rob W. J., McLaughlin, Heather M., Held, Susanne, Kasanuki, Jennifer M., Ramaswami, Gokul, Conte, Jinny, Lopez, Irma, Washburn, Joseph, MacDonald, James, Hu, Jinghua, Yamashita, Yukiko ORCID: 0000-0001-5541-0216, Maher, Eamonn R., Guay-Woodford, Lisa M., Neumann, Hartmut P. H., Obermueller, Nicholas, Koenekoop, Robert K., Bergmann, Carsten, Bei, Xiaoshu ORCID: 0000-0003-1772-7161, Lewis, Richard A., Katsanis, Nicholas ORCID: 0000-0002-2480-0171, Lopes, Vanda, Williams, David S., Lyons, Robert H., Dang, Chi V., Brito, Daniela A., Dias, Monica Bettencourt, Zhang, Xinmin, Cavalcoli, James D., Nuernberg, Gudrun, Nuernberg, Peter, Pierce, Eric A., Jackson, Peter K., Antignac, Corinne, Saunier, Sophie ORCID: 0000-0002-1069-0047, Roepman, Ronald ORCID: 0000-0002-5178-8163, Dollfus, Helene, Khanna, Hemant and Hildebrandt, Friedhelm (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nature Genet., 42 (10). S. 840 - 853. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1546-1718

This list was generated on Wed May 18 06:20:20 2022 CEST.