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

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology

爱沙尼亚全国儿童耐药性癫痫研究:发病率较低及病因学见解

Lilles, Stella; Heidmets, Klari; Oja, Kaisa Teele; Reinson, Karit; Roht, Laura; Pajusalu, Sander; Wojcik, Monica H; Õunap, Katrin; Talvik, Inga

Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

乳腺癌多基因风险评分临床应用指南

Padrik, Peeter; Tõnisson, Neeme; Hovda, Tone; Sahlberg, Kristine Kleivi; Hovig, Eivind; Costa, Luís; Nogueira da Costa, Gonçalo; Feldman, Inna; Sampaio, Filipa; Pajusalu, Sander; Ojamaa, Kristiina; Kallak, Kersti; Tihamäe, Ave-Triin; Roht, Laura; Kahre, Tiina; Lepland, Anni; Sõber, Siim; Kruuv-Käo, Krista; Tamm, Madli; Varghese, Jajini; Evans, Dafydd Gareth

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

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature

AXIN2相关少牙症-结直肠癌综合征伴腭裂可能是一种新的特征

Roht, Laura; Hyldebrandt, Hanne K; Stormorken, Astrid T; Nordgarden, Hilde; Sijmons, Rolf H; Bos, Dennis K; Riegert-Johnson, Douglas; Mantia-Macklin, Sarah; Ilves, Pilvi; Muru, Kai; Wojcik, Monica H; Kahre, Tiina; Õunap, Katrin

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder

TAF4基因中新出现的假定功能丧失变异与神经发育障碍相关

Janssen, Beau D E; van den Boogaard, Marie-Jose H; Lichtenbelt, Klaske; Seaby, Eleanor G; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J; van Gassen, Koen; van Jaarsveld, Richard H

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021

爱沙尼亚结直肠癌患者种系致病变异的患病率:2016-2021 年常规临床研究结果

Roht, Laura; Tooming, Mikk; Rekker, Kadri; Roomere, Hanno; Toome, Kadri; Murumets, Ülle; Šamarina, Ustina; Õunap, Katrin; Kahre, Tiina

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

精准的、以基因型为先导的乳腺癌预防:将单基因研究结果从人群生物样本库应用于临床实践的经验

Jürgens, Hannes; Roht, Laura; Leitsalu, Liis; Nõukas, Margit; Palover, Marili; Nikopensius, Tiit; Reigo, Anu; Kals, Mart; Kallak, Kersti; Kütner, Riina; Budrikas, Kai; Kuusk, Saskia; Valvere, Vahur; Laidre, Piret; Toome, Kadri; Rekker, Kadri; Tooming, Mikk; Ülle Murumets; Kahre, Tiina; Kruuv-Käo, Krista; Õunap, Katrin; Padrik, Peeter; Metspalu, Andres; Esko, Tõnu; Fischer, Krista; Tõnisson, Neeme

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。

Jacob R Stolz ,Kendall M Foote ,Hermine E Veenstra-Knol ,Rolph Pfundt ,Sanne W Ten Broeke ,Nicole de Leeuw ,Laura Roht ,Sander Pajusalu ,Reelika Part ,Ionella Rebane ,Katrin Õunap ,Zornitza Stark ,Edwin P Kirk ,John A Lawson ,Sebastian Lunke ,John Christodoulou ,Raymond J Louie ,R Curtis Rogers ,Jessica M Davis ,A Micheil Innes ,Xing-Chang Wei ,Boris Keren ,Cyril Mignot ,Robert Roger Lebel ,Steven M Sperber ,Ai Sakonju ,Nienke Dosa ,Daniela Q C M Barge-Schaapveld ,Cacha M P C D Peeters-Scholte ,Claudia A L Ruivenkamp ,Bregje W van Bon ,Joanna Kennedy ,Karen J Low ,Sian Ellard ,Lewis Pang ,Joseph J Junewick ,Paul R Mark ,Gemma L Carvill ,Geoffrey T Swanson

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。

Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T