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481 results

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Page 1
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.
May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, Becker F, Lachance-Touchette P, Meloche C, Gravel M, Niturad CE, Knaus J, De Kovel C, Toliat M, Polvi A, Iacomino M, Guerrero-López R, Baulac S, Marini C, Thiele H, Altmüller J, Jabbari K, Ruppert AK, Jurkowski W, Lal D, Rusconi R, Cestèle S, Terragni B, Coombs ID, Reid CA, Striano P, Caglayan H, Siren A, Everett K, Møller RS, Hjalgrim H, Muhle H, Helbig I, Kunz WS, Weber YG, Weckhuysen S, Jonghe P, Sisodiya SM, Nabbout R, Franceschetti S, Coppola A, Vari MS, Kasteleijn-Nolst Trenité D, Baykan B, Ozbek U, Bebek N, Klein KM, Rosenow F, Nguyen DK, Dubeau F, Carmant L, Lortie A, Desbiens R, Clément JF, Cieuta-Walti C, Sills GJ, Auce P, Francis B, Johnson MR, Marson AG, Berghuis B, Sander JW, Avbersek A, McCormack M, Cavalleri GL, Delanty N, Depondt C, Krenn M, Zimprich F, Peter S, Nikanorova M, Kraaij R, van Rooij J, Balling R, Ikram MA, Uitterlinden AG, Avanzini G, Schorge S, Petrou S, Mantegazza M, Sander T, LeGuern E, Serratosa JM, Koeleman BPC, Palotie A, Lehesjoki AE, Nothnagel M, Nürnberg P, Maljevic S, Zara F, Cossette P, Krause R, Lerche H; Epicure Consortium; EuroEPINOMICS CoGIE Consortium; EpiPGX Consortiu… See abstract for full author list ➔ May P, et al. Among authors: hjalgrim h. Lancet Neurol. 2018 Aug;17(8):699-708. doi: 10.1016/S1474-4422(18)30215-1. Epub 2018 Jul 17. Lancet Neurol. 2018. PMID: 30033060 Free article.
Diagnostic implications of genetic copy number variation in epilepsy plus.
Coppola A, Cellini E, Stamberger H, Saarentaus E, Cetica V, Lal D, Djémié T, Bartnik-Glaska M, Ceulemans B, Helen Cross J, Deconinck T, Masi S, Dorn T, Guerrini R, Hoffman-Zacharska D, Kooy F, Lagae L, Lench N, Lemke JR, Lucenteforte E, Madia F, Mefford HC, Morrogh D, Nuernberg P, Palotie A, Schoonjans AS, Striano P, Szczepanik E, Tostevin A, Vermeesch JR, Van Esch H, Van Paesschen W, Waters JJ, Weckhuysen S, Zara F, De Jonghe P, Sisodiya SM, Marini C; EuroEPINOMICS-RES Consortium; EpiCNV Consortium. Coppola A, et al. Epilepsia. 2019 Apr;60(4):689-706. doi: 10.1111/epi.14683. Epub 2019 Mar 13. Epilepsia. 2019. PMID: 30866059 Free PMC article.
Iron deficiency and infection risk in Danish blood donors.
Brøns N, Kaspersen KA, Bay JT, Dowsett J, Erikstrup C, Hjalgrim H, Aagaard B, Mikkelsen C, Mikkelsen S, Pedersen OB, Rostgaard K, Schwinn M, Sørensen E, Rigas AS, Glenthøj A, Ostrowski SR. Brøns N, et al. Among authors: hjalgrim h. Transfusion. 2025 Jan 14. doi: 10.1111/trf.18105. Online ahead of print. Transfusion. 2025. PMID: 39807019
A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.
Kjærsgaard Andersen R, Stefansdottir L, Riis PT, Halldorsson G, Ferkingstad E, Oddsson A, Walters B, Olafsdottir TA, Rutsdottir G, Zachariae C, Thomsen SF, Brodersen T, Dinh KM, Knowlton KU, Knight S, Nadauld LD, Banasik K, Brunak S, Hansen TF, Hjalgrim H, Sørensen E, Mikkelsen C, Ullum H, Nyegaard M, Bruun MT, Erikstrup C, Ostrowski SR, Eidsmo L, Saunte DML, Sigurgeirsson B, Orvar KB, Saemundsdottir J, Melsted P, Norddahl GL, Sulem P, Stefansson H, Holm H, Gudbjartsson D, Thorleifsson G, Jonsdottir I, Pedersen OBV, Jemec GBE, Stefansson K. Kjærsgaard Andersen R, et al. Among authors: hjalgrim h. J Am Acad Dermatol. 2024 Dec 5:S0190-9622(24)03292-4. doi: 10.1016/j.jaad.2024.11.050. Online ahead of print. J Am Acad Dermatol. 2024. PMID: 39645042 Free article.
Novel loci and biomedical consequences of iron homoeostasis variation.
Allara E, Bell S, Smith R, Keene SJ, Gill D, Gaziano L, Morselli Gysi D, Wang F, Tragante V, Mason A, Karthikeyan S, Lumbers RT, Bonglack E, Ouwehand W, Roberts DJ, Dowsett J, Ostrowski SR, Larsen MH, Ullum H, Pedersen OB, Brunak S, Banasik K, Erikstrup C; DBDS Genomic Consortium; Mitchell J, Fuchsberger C, Pattaro C, Pramstaller PP, Girelli D, Arvas M, Toivonen J, Molnos S, Peters A, Polasek O, Rudan I, Hayward C, McDonnell C, Pirastu N, Wilson JF, van den Hurk K, Quee F, Ferrucci L, Bandinelli S, Tanaka T, Girotto G, Concas MP, Pecori A, Verweij N, van der Harst P, van de Vegte YJ, Kiemeney LA, Sweep FC, Galesloot TE, Sulem P, Gudbjartsson D, Ferkingstad E; FinnGen Consortium; Djousse L, Cho K, Inouye M, Burgess S, Benyamin B, Oexle K, Swinkels D, Stefansson K, Magnusson M, Ganna A, Gaziano M, Ivey K, Danesh J, Pereira A, Wood AM, Butterworth AS, Di Angelantonio E. Allara E, et al. Commun Biol. 2024 Dec 6;7(1):1631. doi: 10.1038/s42003-024-07115-3. Commun Biol. 2024. PMID: 39643614 Free PMC article.
Impact of CCR5Δ32 on the risk of infection, Staphylococcus aureus carriage, and plasma concentrations of chemokines in Danish blood donors.
Dinh KM, Kaspersen KA, Mikkelsen S, Kjerulff BD, Boldsen JK, Petersen MS, Burgdorf KS, Sørensen E, Aagaard B, Forman-Ankjær B, Bruun MT, Banasik K, Hansen TF, Nyegaard M, Rohde PD, Brunak S, Hjalgrim H, Ostrowski SR, Pedersen OB, Ullum H, Erikstrup LT, Erikstrup C. Dinh KM, et al. Among authors: hjalgrim h. EBioMedicine. 2024 Nov;109:105406. doi: 10.1016/j.ebiom.2024.105406. Epub 2024 Oct 21. EBioMedicine. 2024. PMID: 39437658 Free PMC article.
Medical history and lifestyle factors have limited impact on time-to-first-treatment in patients with chronic lymphocytic leukemia.
Glimelius I, Kleinstern G, Robinson DP, Mansouri L, Rostgaard K, Hjalgrim H, Niemann CU, Mattsson M, Rabe KG, Hampel PJ, Parikh SA, Rosenquist R, Cerhan JR, Slager SL, Smedby KE. Glimelius I, et al. Among authors: hjalgrim h. EJHaem. 2024 Aug 27;5(5):998-1004. doi: 10.1002/jha2.1000. eCollection 2024 Oct. EJHaem. 2024. PMID: 39415908 Free PMC article.
Trigeminal neuralgia and its comorbidities: a nationwide disease trajectory study.
Worm J, Jørgensen IF, Davídsson ÓB, Hjalgrim H, Röder T, Ostrowski SR, Pedersen OB, Erikstrup C, Bruun MT, Jensen BA, Sørensen E, Ullum H, Björnsdóttir G, Thorgeirsson T, Stefánsson H, Sveinsson ÓÁ, Stefánsson K, Schytz HW, Bendtsen L, Brunak S, Hansen TF, Maarbjerg S; DBDS Genomic Consortium. Worm J, et al. Among authors: hjalgrim h. Pain. 2024 Oct 1. doi: 10.1097/j.pain.0000000000003428. Online ahead of print. Pain. 2024. PMID: 39365662
No association between migraine and HLA alleles in a cohort of 13,210 individuals with migraine from the Danish Blood Donor Study.
Tummoszeit IZ, Olofsson IA, Chalmer MA, Henriksen AP, Aagaard B, Brunak S, Bruun MT, Didriksen M, Erikstrup C, Hjalgrim H, Mikkelsen C, Mikkelsen S, Ostrowski SR, Pedersen OBV, Quinn L, Sørensen E, Ullum H, Olesen J, Banasik K, Hansen TF, Kogelman LJA; DBDS Genomic consortium group. Tummoszeit IZ, et al. Among authors: hjalgrim h. Headache. 2025 Jan;65(1):124-131. doi: 10.1111/head.14784. Epub 2024 Oct 1. Headache. 2025. PMID: 39352055 Free PMC article.
481 results