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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet. 2024 May 10:S0002-9297(24)00129-0. doi: 10.1016/j.ajhg.2024.04.014. Online ahead of print.
Am J Hum Genet. 2024.
PMID: 38744284
Free article.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, Angireddy R, Wang XM, Weiss E, Mendoza-Londono R, Dupuis L, Damseh N, Velasco D, Valenzuela I, Codina-Solà M, Ziats C, Have J, Clarkson K, Steel D, Kurian M, Barwick K, Carrasco D, Dagli AI, Nowaczyk MJM, Hančárová M, Bendová Š, Prchalova D, Sedláček Z, Baxová A, Nowak CB, Douglas J, Chung WK, Longo N, Platzer K, Klöckner C, Averdunk L, Wieczorek D, Krey I, Zweier C, Reis A, Balci T, Simon M, Kroes HY, Wiesener A, Vasileiou G, Marinakis NM, Veltra D, Sofocleous C, Kosma K, Traeger Synodinos J, Voudris KA, Vuillaume ML, Gueguen P, Derive N, Colin E, Battault C, Au B, Delatycki M, Wallis M, Gallacher L, Majdoub F, Smal N, Weckhuysen S, Schoonjans AS, Kooy RF, Meuwissen M, Cocanougher BT, Taylor K, Pizoli CE, McDonald MT, James P, Roeder ER, Littlejohn R, Borja NA, Thorson W, King K, Stoeva R, Suerink M, Nibbeling E, Baskin S, L E Guyader G, Kaplan J, Muss C, Carere DA, Bhoj EJK, Bryant LM.
Layo-Carris DE, et al. Among authors: smal n.
Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38678163
Free article.
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B.
Picketts D, et al. Among authors: smal n.
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.
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Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.
Dirkx N, Weuring WJ, De Vriendt E, Smal N, van de Vondervoort J, van 't Slot R, Koetsier M, Zonnekein N, De Pooter T, Weckhuysen S, Koeleman BPC.
Dirkx N, et al. Among authors: smal n.
BMC Biol. 2023 Jul 13;21(1):156. doi: 10.1186/s12915-023-01646-7.
BMC Biol. 2023.
PMID: 37443005
Free PMC article.
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ.
Manivannan SN, et al. Among authors: smal n.
Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409.
Brain. 2022.
PMID: 34788397
Free PMC article.
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Combined minimally invasive techniques to cure accidental dural tears occurring during spine surgery: epidural blood patch associated with cerebrospinal fluid drainage and ventral bed rest.
Defresen AA, Smal N, Belle FC, Renwart HP, Bonhomme VL.
Defresen AA, et al. Among authors: smal n.
Acta Anaesthesiol Belg. 2016;67(3):143-147.
Acta Anaesthesiol Belg. 2016.
PMID: 29873470
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