日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Symptom improvement in adenomyosis patients after ultrasound guided microwave ablation or uterine artery embolization, A randomized controlled pilot study

超声引导下微波消融或子宫动脉栓塞术后子宫腺肌症患者症状改善情况:一项随机对照试点研究

Jonsdottir, Gudny; Lantz, Erika; Beermann, Marie; Paschou, Maria; Kallner, Helena Kopp; Hasselrot, Klara

Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant

两例患有BAP1肿瘤易感综合征的关联患者出现脾脏错构瘤,该综合征由一种新的生殖系BAP1 p.(Gly128Arg)错义变异引起。

Ragnarsson, Kristjan Ari; Garcia, Gloria; Jonasson, Jon Gunnlaugur; Arnadottir, Gudny Anna; Reykdal, Sigrun Edda; Arngrimsson, Reynir; Haraldsdottir, Sigurdis; Jonsson, Jon Johannes

A frameshift variant in PKP2 can be associated with a complex phenotype in sudden cardiac death: a case report

PKP2基因移码变异可能与猝死的复杂表型相关:病例报告

Davidsson, Gustav A; Arnadottir, Gudny A; Sveinbjornsson, Gardar; Ottarsdottir, Helga; Arnar, David O

Sequence diversity lost in early pregnancy

妊娠早期序列多样性丧失

Arnadottir, Gudny A; Jonsson, Hakon; Hartwig, Tanja Schlaikjær; Gruhn, Jennifer R; Møller, Peter Loof; Gylfason, Arnaldur; Westergaard, David; Chan, Andrew Chi-Ho; Oddsson, Asmundur; Stefansdottir, Lilja; Roux, Louise le; Steinthorsdottir, Valgerdur; Swerford Moore, Kristjan H; Olafsson, Sigurgeir; Olason, Pall I; Eggertsson, Hannes P; Halldórsson, Gísli H; Walters, G Bragi; Stefansson, Hreinn; Gudjonsson, Sigurjon A; Palsson, Gunnar; Jensson, Brynjar O; Fridriksdottir, Run; Petersen, Jesper Friis; Helgason, Agnar; Norddahl, Gudmundur L; Rohde, Palle Duun; Saemundsdottir, Jona; Magnusson, Olafur Th; Halldorsson, Bjarni V; Bliddal, Sofie; Banasik, Karina; Gudbjartsson, Daniel F; Nyegaard, Mette; Sulem, Patrick; Thorsteinsdottir, Unnur; Hoffmann, Eva R; Nielsen, Henriette Svarre; Stefansson, Kari

Rare loss-of-function variants in HECTD2 and AKAP11 confer risk of bipolar disorder

HECTD2 和 AKAP11 中罕见的失活变异会增加患双相情感障碍的风险。

Thorgeirsson, Thorgeir E; Tragante, Vinicius; Sveinbjornsson, Gardar; Jonsdottir, Gudrun A; Walters, G Bragi; Ivarsdottir, Erna V; Arnadottir, Gudny A; Sturluson, Arni; Jensson, Brynjar O; Fridriksdottir, Run; Skuladottir, Astros Th; Einarsson, Gudmundur; Bjornsdottir, Gyda; Gunnarsson, Arni F; Gisladottir, Rosa S; Sigurdsson, Asgeir; Oddsson, Asmundur; Jonsson, Hakon; Magnusson, Olafur Th; Helgason, Hannes; Norddahl, Gudmundur; Thorleifsson, Gudmar; Haraldsson, Magnus; Sigurdsson, Engilbert; Holm, Hilma; Masson, Gisli; Gudbjartsson, Daniel F; Stefansson, Hreinn; Sulem, Patrick; Stefansson, Kari

African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk

非洲裔特有的IKKβ p.Glu502Lys变异体与较高的狼疮风险相关

Thorlacius, Gudny Ella; Ivarsdottir, Erna V; Saevarsdottir, Saedis; Moore, Kristjan H S; Gudjonsson, Sigurjon A; Halldorsson, Bjarni V; Holm, Hilma; Jonasdottir, Aslaug; Jonsson, Frosti; Kristmundsdottir, Snaedis; Masson, Gisli; Magnusson, Olafur T; Norddahl, Gudmundur L; Oddsson, Asmundur; Olafsdottir, Thorunn A; Olason, Pall I; Skaftason, Aron; Stefansdottir, Lilja; Sturluson, Arni; Thorsteinsdottir, Unnur; Thorleifsson, Gudmar; Walker, Valentin Y; Zink, Florian; Steingrimsson, Eirikur; Gudbjartsson, Daniel F; Jonsdottir, Ingileif; Helgason, Agnar; Sulem, Patrick; Stefansson, Kari

Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland

DDX6-CXCR5自身免疫疾病风险位点的变异会影响免疫细胞和唾液腺中的调控网络。

Wiley, Mandi M; Radziszewski, Marcin; Khatri, Bhuwan; Joachims, Michelle L; Tessneer, Kandice L; Stolarczyk, Anna M; Yao, Songyuan; Li, James; Pritchett-Frazee, Cherilyn; Johnston, Audrey A; Rasmussen, Astrid; Anaya, Juan-Manuel; Aqrawi, Lara A; Bae, Sang-Cheol; Baecklund, Eva; Björk, Albin; Brun, Johan G; Bucher, Sara Magnusson; Dand, Nick; Eloranta, Maija-Leena; Engelke, Fiona; Forsblad-d'Elia, Helena; Fugmann, Cecilia; Glenn, Stuart B; Gong, Chen; Gottenberg, Jacques-Eric; Hammenfors, Daniel; Imgenberg-Kreuz, Juliana; Jensen, Janicke Liaaen; Johnsen, Svein Joar Auglænd; Jonsson, Malin V; Kelly, Jennifer A; Khanam, Sharmily; Kim, Kwangwoo; Kvarnström, Marika; Mandl, Thomas; Martín, Javier; Morris, David L; Nocturne, Gaetane; Norheim, Katrine Brække; Olsson, Peter; Palm, Øyvind; Pers, Jacques-Olivier; Rhodus, Nelson L; Sjöwall, Christopher; Skarstein, Kathrine; Taylor, Kimberly E; Tombleson, Phil; Thorlacius, Gudny Ella; Venuturupalli, Swamy R; Vital, Edward M; Wallace, Daniel J; Radfar, Lida; Brennan, Michael T; James, Judith A; Scofield, R Hal; Gaffney, Patrick M; Criswell, Lindsey A; Jonsson, Roland; Appel, Silke; Eriksson, Per; Bowman, Simon J; Omdal, Roald; Rönnblom, Lars; Warner, Blake M; Rischmueller, Maureen; Witte, Torsten; Farris, A Darise; Mariette, Xavier; Shiboski, Caroline H; Wahren-Herlenius, Marie; Alarcón-Riquelme, Marta E; Ng, Wan-Fai; Sivils, Kathy L; Guthridge, Joel M; Adrianto, Indra; Vyse, Timothy J; Tsao, Betty P; Nordmark, Gunnel; Lessard, Christopher J

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

The SIMPLER Nutrition Pathway for Fragility Fractures: A Quality Improvement Initiative

针对脆性骨折的更简易营养路径:一项质量改进计划

Bell, Jack J; Geirsdottir, Olof Gudny; Johansen, Antony; Santy-Tomlinson, Julie; Frihagen, Frede; McGlasson, Rhona; Sutton, Emma; Hertz, Karen