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

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

OTUD5 的连接特异性去泛素化定义了一种对基因组变异不耐受的胚胎途径

David B Beck, Mohammed A Basar, Anthony J Asmar, Joyce J Thompson, Hirotsugu Oda, Daniela T Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D'Souza, Joann Bodurtha, Weiyi Mu, Kristin W Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, T

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

GABRB3基因突变:从热性惊厥到癫痫性脑病

Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M; Brilstra, Eva H; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nils; Jacobs, Julia; Swinkels, Marielle; Betzler, Cornelia; Syrbe, Steffen; Nikanorova, Marina; Myers, Candace T; Larsen, Line H G; Vejzovic, Sabina; Pendziwiat, Manuela; von Spiczak, Sarah; Hopkins, Sarah; Dubbs, Holly; Mang, Yuan; Mukhin, Konstantin; Holthausen, Hans; van Gassen, Koen L; Dahl, Hans A; Tommerup, Niels; Mefford, Heather C; Rubboli, Guido; Guerrini, Renzo; Lemke, Johannes R; Lerche, Holger; Muhle, Hiltrud; Maljevic, Snezana

Resting-State Functional Connectivity and Cognitive Impairment in Children with Perinatal Stroke

围产期卒中患儿的静息态功能连接和认知障碍

Ilves, Nigul; Ilves, Pilvi; Laugesaar, Rael; Juurmaa, Julius; Männamaa, Mairi; Lõo, Silva; Loorits, Dagmar; Tomberg, Tiiu; Kolk, Anneli; Talvik, Inga; Talvik, Tiina

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

癫痫性脑病和家族性癫痫的基因检测

Møller, Rikke S; Larsen, Line H G; Johannesen, Katrine M; Talvik, Inga; Talvik, Tiina; Vaher, Ulvi; Miranda, Maria J; Farooq, Muhammad; Nielsen, Jens E K; Svendsen, Lene Lavard; Kjelgaard, Ditte B; Linnet, Karen M; Hao, Qin; Uldall, Peter; Frangu, Mimoza; Tommerup, Niels; Baig, Shahid M; Abdullah, Uzma; Born, Alfred P; Gellert, Pia; Nikanorova, Marina; Olofsson, Kern; Jepsen, Birgit; Marjanovic, Dragan; Al-Zehhawi, Lana I K; Peñalva, Sofia J; Krag-Olsen, Bente; Brusgaard, Klaus; Hjalgrim, Helle; Rubboli, Guido; Pal, Deb K; Dahl, Hans A

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

CHD2 的新生功能丧失突变导致发热敏感性肌阵挛性癫痫性脑病,与 Dravet 综合征有共同的特征

Arvid Suls, Johanna A Jaehn, Angela Kecskés, Yvonne Weber, Sarah Weckhuysen, Dana C Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel M Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande S Caglayan, Beatriz G Giraldez, J