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

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

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

Antagonistic roles for MITF and TFE3 in melanoma plasticity.

MITF 和 TFE3 在黑色素瘤可塑性中起拮抗作用

Chang Jeremy, Campbell-Hanson Katelyn R, Vanneste Marion, Bartschat Nicholas I, Nagel Ryan, Arnadottir Asdis K, Vu Hong Nhung, Montgomery Collin, Yevdash Julius, Jiang Jiarui, Bhinu Ardith, Helverson Annika, Henry Michael D, Steingrímsson Eiríkur, Weigel Ronald J, Cornell Robert A, Kenny Colin

Familial risk and phenotypic variation of sarcoidosis in the Icelandic population

冰岛人群中结节病的家族风险和表型变异

Arnadottir, Berglind; Jonasson, Jon G; Haraldsdottir, Sigridur O; Gislason, Thorarinn; Gudbjornsson, Bjorn

Challenges and opportunities for falls prevention: an online survey across European healthcare professionals

预防跌倒的挑战与机遇:一项针对欧洲医疗保健专业人员的在线调查

Seppala, Lotta J; Frith, James; Skelton, Dawn A; Becker, Clemens; Blain, Hubert; Kenny, Rose-Anne; Linn, Annemiek J; Ryg, Jesper; Arnadottir, Solveig A; Bahat, Gülistan; Bonnici, Maria; Mora, María Ángeles Caballero; Dionyssiotis, Yannis; Frankenthal, Dvora; Hartikainen, Sirpa; Helbostad, Jorunn L; Herrero, Alvaro Casas; İlhan, Birkan; Jonsdottir, Anna B; Markovski, Marija; Roller-Wirnsberger, Regina; Ruggiero, Carmelinda; Saltvedt, Ingvild; Skalska, Anna; Smedberg, Daniel; Soulis, George; Szczerbińska, Katarzyna; Topinkova, Eva; Veninšek, Gregor; Vlaeyen, Ellen; Ylli, Alban; van der Velde, Nathalie

Results from the IceGut study: tracking the gut microbiome development from mothers and infants up to five years of age

IceGut研究结果:追踪母亲和婴儿直至五岁期间肠道微生物群的发育情况

Arnadottir, Agnes Thora; Skirnisdottir, Sigurlaug; Knobloch, Stephen; Corral-Jara, Karla F; Klonowski, Alexandra Maria; Gunnarsdottir, Ingibjorg; Marteinsson, Viggo Thor

Release of Cardiac Myosin-binding Protein C Compared With Cardiac Troponin After Brief Ischemia in Humans

短暂性缺血后,人体心肌肌球蛋白结合蛋白C与心肌肌钙蛋白的释放比较

Alaour, Bashir; Hasselbalch, Rasmus Bo; Arnadottir, Asthildur; Kaier, Thomas E; McGrath, Samuel; Haahr-Pedersen, Sune Ammentorp; Bundgaard, Henning; Marber, Michael; Iversen, Kasper Karmark