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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Among authors: wojcik a. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: wojcik a. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
The International Climate Psychology Collaboration: Climate change-related data collected from 63 countries.
Doell KC, Todorova B, Vlasceanu M, Bak Coleman JB, Pronizius E, Schumann P, Azevedo F, Patel Y, Berkebile-Wineberg MM, Brick C, Lange F, Grayson SJ, Pei Y, Chakroff A, van den Broek KL, Lamm C, Vlasceanu D, Constantino SM, Rathje S, Goldwert D, Fang K, Aglioti SM, Alfano M, Alvarado-Yepez AJ, Andersen A, Anseel F, Apps MAJ, Asadli C, Awuor FJ, Basaglia P, Bélanger JJ, Berger S, Bertin P, Białek M, Bialobrzeska O, Blaya-Burgo M, Bleize DNM, Bø S, Boecker L, Boggio PS, Borau S, Borau S, Bos B, Bouguettaya A, Brauer M, Brik T, Briker R, Brosch T, Buchel O, Buonauro D, Butalia R, Carvacho H, Chamberlain SAE, Chan HY, Chow D, Chung D, Cian L, Cohen-Eick N, Contreras-Huerta LS, Contu D, Cristea V, Cutler J, D'Ottone S, De Keersmaecker J, Delcourt S, Delouvée S, Diel K, Douglas BD, Drupp MA, Dubey S, Ekmanis J, Elbaek CT, Elsherif M, Engelhard IM, Escher YA, Etienne TW, Farage L, Farias AR, Feuerriegel S, Findor A, Freira L, Friese M, Gains NP, Gallyamova A, Geiger SJ, Genschow O, Gjoneska B, Gkinopoulos T, Goldberg B, Goldenberg A, Gradidge S, Grassini S, Gray K, Grelle S, Griffin SM, Grigoryan L, Grigoryan A, Grigoryev D, Gruber J, Guilaran J, Hadar B, Hahnel UJJ, Halperin E, Harvey AJ… See abstract for full author list ➔ Doell KC, et al. Among authors: wojcik ad. Sci Data. 2024 Oct 1;11(1):1066. doi: 10.1038/s41597-024-03865-1. Sci Data. 2024. PMID: 39353944 Free PMC article.
490 results