HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY

Autor: Claus, Laura R., Stallworth, Jennifer, Van Jaarsveld, Richard H., Louie, Ray, Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Ziegler, Alban, Barakat, Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Larsen, Martin J., Hertz, Jens Michael, Lilien, Marc, Olinger, Eric, Sayer, John A., Rogers, Curtis, Duran, Karen J., Peters, Edith Dj, Van Haaften, Gijs, Steet, Richard, Van Eerde, Albertien M.

Publikováno v: Claus, L R, Stallworth, J, Van Jaarsveld, R H, Louie, R, Silver, J, Lerner-Ellis, J, Morel, C, Mighton, C, Ziegler, A, Barakat, S, Dahan, K, Demoulin, N, Goffin, E, Larsen, M J, Hertz, J M, Lilien, M, Olinger, E, Sayer, J A, Rogers, C, Duran, K J, Peters, E D, Van Haaften, G, Steet, R & Van Eerde, A M 2021, ' HETEROZYGOUS VARIANTS IN KINASE DOMAIN OF NEK8 CAUSE AN AUTOSOMAL-DOMINANT CILIOPATHY ', Pediatric Nephrology, vol. 36, no. 10, OP-36, pp. 3299-3300 . < https://link.springer.com/article/10.1007/s00467-021-05210-9 >

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::1e7a4d8a6b2d6798e0bd5f3c9e54b574
https://link.springer.com/article/10.1007/s00467-021-05210-9

De novocoding variants in the AGO1gene cause a neurodevelopmental disorder with intellectual disability

Autor: Schalk, Audrey, Cousin, Margot A, Dsouza, Nikita R, Challman, Thomas D, Wain, Karen E, Powis, Zoe, Minks, Kelly, Trimouille, Aurélien, Lasseaux, Eulalie, Lacombe, Didier, Angelini, Chloé, Michaud, Vincent, Van-Gils, Julien, Spataro, Nino, Ruiz, Anna, Gabau, Elizabeth, Stolerman, Elliot, Washington, Camerun, Louie, Ray, Lanpher, Brendan C, Kemppainen, Jennifer L, Innes, Micheil, Kooy, Frank, Meuwissen, Marije, Goldenberg, Alice, Lecoquierre, Francois, Vera, Gabriella, Diderich, Karin E M, Sheidley, Beth, El Achkar, Christelle Moufawad, Park, Meredith, Hamdan, Fadi F, Michaud, Jacques L, Lewis, Ann J, Zweier, Christiane, Reis, André, Wagner, Matias, Weigand, Heike, Journel, Hubert, Keren, Boris, Passemard, Sandrine, Mignot, Cyril, van Gassen, Koen, Brilstra, Eva H, Itzikowitz, Gina, O'Heir, Emily, Allen, Jake, Donald, Kirsten A, Korf, Bruce Richard, Skelton, Tammi, Thompson, Michelle, Robin, Nathaniel H, Rudy, Natasha L, Dobyns, William B, Foss, Kimberly, Zarate, Yuri Alexander, Bosanko, Katherine A, Alembik, Yves, Durand, Benjamin, Tran Mau-them, Frederic, Ranza, Emmanuelle, Blanc, Xavier, Antonarakis, Stylianos E, McWalter, Kirsty, Torti, Erin, Millan, Francisca, Dameron, Amy, Tokita, Mari, Zimmermann, Michael T, Klee, Eric W, Piton, Amelie, Gerard, Benedicte

Publikováno v: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p