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Page 1
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies.
Ferri L, Menghi V, Licchetta L, Dimartino P, Minardi R, Davì C, Di Vito L, Cifaldi E, Zenesini C, Gozzo F, Pelliccia V, Mariani V, de Spelorzi YCC, Gustincich S, Seri M, Tassi L, Pippucci T, Bisulli F. Ferri L, et al. Among authors: seri m. Epilepsy Behav. 2024 Apr;153:109716. doi: 10.1016/j.yebeh.2024.109716. Epub 2024 Mar 19. Epilepsy Behav. 2024. PMID: 38508103
Integrated use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools and Risk Prognostication.
Wolff CA, Aiello V, Elhassan EAE, Cristalli C, Lerario S, Paccapelo A, Ciurli F, Montanari F, Conti A, Benson K, Seri M, Brigl CB, Münster JS, Sciascia N, Kursch S, de Fallois J, La Manna G, Eckardt KU, Rank N, Popp B, Schönauer R, Conlon PJ, Capelli I, Halbritter J. Wolff CA, et al. Among authors: seri m. Clin J Am Soc Nephrol. 2024 Dec 20. doi: 10.2215/CJN.0000000625. Online ahead of print. Clin J Am Soc Nephrol. 2024. PMID: 39705090
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: seri m. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies.
Austin-Zimmerman I, Spinazzola E, Quattrone D, Wu-Choi B, Trotta G, Li Z, Johnson E, Richards AL, Freeman TP, Tripoli G, Gayer-Anderson C, Rodriguez V, Jongsma HE, Ferraro L, La Cascia C, Tosato S, Tarricone I, Berardi D, Bonora E, Seri M, D'Andrea G, Szöke A, Arango C, Bobes J, Sanjuán J, Santos JL, Arrojo M, Velthorst E, Bernardo M, Del-Ben CM, Rossi Menezes P, Selten JP, Jones PB, Kirkbride JB, Rutten BPF, Tortelli A, Llorca PM, de Haan L, Stilo S, La Barbera D, Lasalvia A, Schurnhoff F, Pignon B, van Os J, Lynskey M, Morgan C; EU-GEI WP2 Group; O' Donovan M, Lewis CM, Sham PC, Murray RM, Vassos E, Di Forti M. Austin-Zimmerman I, et al. Among authors: seri m. Psychol Med. 2024 Dec 6;54(15):1-13. doi: 10.1017/S0033291724002058. Online ahead of print. Psychol Med. 2024. PMID: 39637925 Free PMC article.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: seri m. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
314 results