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

Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis

通过整合生物样本库数据分析揭示遗传性血色素沉着症的基因型-表型关系

Nurm, Miriam; Annilo, Tarmo; May-Wilson, Sebastian; Reigo, Anu; Mägi, Reedik; Võsa, Urmo; Tõnisson, Neeme; Haller, Toomas

The Estonian Biobank's journey from biobanking to personalized medicine

爱沙尼亚生物银行从生物样本库到个性化医疗的历程

Milani, Lili; Alver, Maris; Laur, Sven; Reisberg, Sulev; Haller, Toomas; Aasmets, Oliver; Abner, Erik; Alavere, Helene; Allik, Annely; Annilo, Tarmo; Fischer, Krista; Hofmeister, Robin; Hudjashov, Georgi; Jõeloo, Maarja; Kals, Mart; Karo-Astover, Liis; Kasela, Silva; Kolde, Anastassia; Krebs, Kristi; Krigul, Kertu Liis; Kronberg, Jaanika; Kruusmaa, Karoliina; Kukuškina, Viktorija; Kõiv, Kadri; Lehto, Kelli; Leitsalu, Liis; Lind, Sirje; Luitva, Laura Birgit; Läll, Kristi; Lüll, Kreete; Metsalu, Kristjan; Metspalu, Mait; Mõttus, René; Nelis, Mari; Nikopensius, Tiit; Nurm, Miriam; Nõukas, Margit; Oja, Marek; Org, Elin; Palover, Marili; Palta, Priit; Pankratov, Vasili; Pantiukh, Kateryna; Pervjakova, Natalia; Pujol-Gualdo, Natàlia; Reigo, Anu; Reimann, Ene; Smit, Steven; Rogozina, Diana; Särg, Dage; Taba, Nele; Talvik, Harry-Anton; Teder-Laving, Maris; Tõnisson, Neeme; Vaht, Mariliis; Vainik, Uku; Võsa, Urmo; Yelmen, Burak; Esko, Tõnu; Kolde, Raivo; Mägi, Reedik; Vilo, Jaak; Laisk, Triin; Metspalu, Andres

Use of Estonian Biobank data and participant recall to improve Wilson's disease management

利用爱沙尼亚生物银行数据和参与者回忆来改善威尔逊氏病的管理

Nurm, Miriam; Reigo, Anu; Annilo, Tarmo; Toomsoo, Toomas; Nõukas, Margit; Nikopensius, Tiit; Pankratov, Vasili; Reisberg, Tuuli; Hudjashov, Georgi; Haller, Toomas; Tõnisson, Neeme

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population

林奇综合征在患者和普通人群中的患病率和分子特征

Roht, Laura; Laidre, Piret; Tooming, Mikk; Tõnisson, Neeme; Nõukas, Margit; Nurm, Miriam; Estonian Biobank Research Team; Roomere, Hanno; Rekker, Kadri; Toome, Kadri; Fjodorova, Olga; Murumets, Ülle; Šamarina, Ustina; Pajusalu, Sander; Aaspõllu, Anu; Salumäe, Liis; Muhu, Kristina; Soplepmann, Jaan; Õunap, Katrin; Kahre, Tiina

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia

生物样本库召回研究重要吗?家族性高胆固醇血症研究参与者的长期随访

Nurm, Miriam; Reigo, Anu; Nõukas, Margit; Leitsalu, Liis; Nikopensius, Tiit; Palover, Marili; Annilo, Tarmo; Alver, Maris; Saar, Aet; Marandi, Toomas; Ainla, Tiia; Metspalu, Andres; Esko, Tõnu; Tõnisson, Neeme

Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia

TCF4 错义替换与皮特-霍普金斯综合征、轻度智力障碍和精神分裂症相关的功能后果

Alex Sirp, Kaisa Roots, Kaja Nurm, Jürgen Tuvikene, Mari Sepp, Tõnis Timmusk

Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington's Disease

亨廷顿氏病中碱性螺旋-环-螺旋转录因子 TCF4 水平的异构体特异性降低

Kaja Nurm, Mari Sepp, Carla Castany-Pladevall, Jordi Creus-Muncunill, Jürgen Tuvikene, Alex Sirp, Hanna Vihma, Derek J Blake, Esther Perez-Navarro, Tõnis Timmusk

Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome

Daughterless 是果蝇中 TCF4 的直系同源物,是联想学习和突触蛋白质组维持所必需的

Laura Tamberg, Mariliis Jaago, Kristi Säälik, Alex Sirp, Jürgen Tuvikene, Anastassia Shubina, Carl Sander Kiir, Kaja Nurm, Mari Sepp, Tõnis Timmusk, Mari Palgi

The Fuchs corneal dystrophy-associated CTG repeat expansion in the TCF4 gene affects transcription from its alternative promoters

TCF4 基因中 Fuchs 角膜营养不良相关 CTG 重复扩增影响其替代启动子的转录

Alex Sirp, Kristian Leite, Jürgen Tuvikene, Kaja Nurm, Mari Sepp, Tõnis Timmusk

The Intellectual Disability and Schizophrenia Associated Transcription Factor TCF4 Is Regulated by Neuronal Activity and Protein Kinase A

智力障碍和精神分裂症相关转录因子 TCF4 受神经元活动和蛋白激酶 A 调控

Mari Sepp, Hanna Vihma, Kaja Nurm, Mari Urb, Stephanie Cerceo Page, Kaisa Roots, Anu Hark, Brady J Maher, Priit Pruunsild, Tõnis Timmusk