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1947 1
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107 results

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Page 1
The landscape of epilepsy-related GATOR1 variants.
Baldassari S, Picard F, Verbeek NE, van Kempen M, Brilstra EH, Lesca G, Conti V, Guerrini R, Bisulli F, Licchetta L, Pippucci T, Tinuper P, Hirsch E, de Saint Martin A, Chelly J, Rudolf G, Chipaux M, Ferrand-Sorbets S, Dorfmüller G, Sisodiya S, Balestrini S, Schoeler N, Hernandez-Hernandez L, Krithika S, Oegema R, Hagebeuk E, Gunning B, Deckers C, Berghuis B, Wegner I, Niks E, Jansen FE, Braun K, de Jong D, Rubboli G, Talvik I, Sander V, Uldall P, Jacquemont ML, Nava C, Leguern E, Julia S, Gambardella A, d'Orsi G, Crichiutti G, Faivre L, Darmency V, Benova B, Krsek P, Biraben A, Lebre AS, Jennesson M, Sattar S, Marchal C, Nordli DR Jr, Lindstrom K, Striano P, Lomax LB, Kiss C, Bartolomei F, Lepine AF, Schoonjans AS, Stouffs K, Jansen A, Panagiotakaki E, Ricard-Mousnier B, Thevenon J, de Bellescize J, Catenoix H, Dorn T, Zenker M, Müller-Schlüter K, Brandt C, Krey I, Polster T, Wolff M, Balci M, Rostasy K, Achaz G, Zacher P, Becher T, Cloppenborg T, Yuskaitis CJ, Weckhuysen S, Poduri A, Lemke JR, Møller RS, Baulac S. Baldassari S, et al. Among authors: wegner i. Genet Med. 2019 Feb;21(2):398-408. doi: 10.1038/s41436-018-0060-2. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093711 Free PMC article.
Betahistine for tinnitus.
Wegner I, Hall DA, Smit AL, McFerran D, Stegeman I. Wegner I, et al. Cochrane Database Syst Rev. 2018 Dec 28;12(12):CD013093. doi: 10.1002/14651858.CD013093.pub2. Cochrane Database Syst Rev. 2018. PMID: 30908589 Free PMC article. Review.
LETTER TO THE EDITOR.
Jellema M, Wegner I, Blijleven EE, Thomeer HGXM. Jellema M, et al. Among authors: wegner i. Otol Neurotol. 2024 Sep 1;45(8):954-955. doi: 10.1097/MAO.0000000000004259. Otol Neurotol. 2024. PMID: 39142318 No abstract available.
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center. Jawaid T, et al. J Am Soc Nephrol. 2025 Jun 1;36(6):1056-1071. doi: 10.1681/ASN.0000000613. Epub 2025 Feb 3. J Am Soc Nephrol. 2025. PMID: 39899384
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Tran Mau-Them F, Nambot S, Faivre L, Ars E, Torra R, Ong ACM, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium, and Genkyst Study Group. Zagorec N, et al. Am J Kidney Dis. 2025 Apr;85(4):465-476.e1. doi: 10.1053/j.ajkd.2024.10.009. Epub 2024 Dec 26. Am J Kidney Dis. 2025. PMID: 39732359 Free article.
Lactation studies of anticonvulsants: a quality review.
van der Meer DH, Wieringa A, Wegner I, Wilffert B, Ter Horst PG. van der Meer DH, et al. Among authors: wegner i. Br J Clin Pharmacol. 2015 Apr;79(4):558-65. doi: 10.1111/bcp.12524. Br J Clin Pharmacol. 2015. PMID: 25291358 Free PMC article. Review.
An introduction of genetics in otosclerosis: a systematic review.
Bittermann AJ, Wegner I, Noordman BJ, Vincent R, van der Heijden GJ, Grolman W. Bittermann AJ, et al. Among authors: wegner i. Otolaryngol Head Neck Surg. 2014 Jan;150(1):34-9. doi: 10.1177/0194599813509951. Epub 2013 Oct 29. Otolaryngol Head Neck Surg. 2014. PMID: 24170657
107 results