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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 4 |
2024 | 2 |
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6 results
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Page 1
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1.
Res Sq. 2023.
PMID: 37841849
Free PMC article.
Preprint.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC.
Almousa H, et al.
Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301.
Brain. 2024.
PMID: 37713627
Item in Clipboard
A transposase-derived gene required for human brain development.
Zapater LJ, Rodriguez-Fos E, Planas-Felix M, Lewis S, Cameron D, Demarest P, Nabila A, Zhao J, Bergin P, Reed C, Yamada M, Pagnozzi A, Nava C, Bourel-Ponchel E, Neilson DE, Dursun A, Özgül RK, Akar HT, Socci ND, Hayes M, Rabadan R, Torrents D, Kruer MC, Toth M, Kentsis A.
Zapater LJ, et al.
bioRxiv [Preprint]. 2023 May 23:2023.04.28.538770. doi: 10.1101/2023.04.28.538770.
bioRxiv. 2023.
PMID: 37163102
Free PMC article.
Preprint.
Item in Clipboard
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G.
Mirchi A, et al.
J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16.
J Med Genet. 2023.
PMID: 37197783
Free PMC article.
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Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Niceta M, Pizzi S, Inzana F, Peron A, Bakhtiari S, Nizon M, Levy J, Mancini C, Cogné B, Radio FC, Agolini E, Cocciadiferro D, Novelli A, Salih MA, Recalcati MP, Arancio R, Besnard M, Tabet AC, Kruer MC, Priolo M, Dallapiccola B, Tartaglia M.
Niceta M, et al.
Clin Genet. 2023 Feb;103(2):156-166. doi: 10.1111/cge.14247. Epub 2022 Nov 24.
Clin Genet. 2023.
PMID: 36224108
Free PMC article.
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eIF2α phosphorylation evokes dystonia-like movements with D2-receptor and cholinergic origin and abnormal neuronal connectivity.
Lewis SA, Forstrom J, Tavani J, Schafer R, Tiede Z, Padilla-Lopez SR, Kruer MC.
Lewis SA, et al.
bioRxiv [Preprint]. 2024 May 15:2024.05.14.594240. doi: 10.1101/2024.05.14.594240.
bioRxiv. 2024.
PMID: 38798458
Free PMC article.
Preprint.
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