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

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans

CELSR1基因的双等位基因变异会导致人类脑畸形、神经发育障碍和癫痫。

Bonardi, Claudia M; Møller, Rikke S; Ruiz-Reig, Nuria; Chai, Guoliang; Madsen, Camilla G; Bayat, Allan; Hammer, Trine B; Fenger, Christina D; Gardella, Elena; Gawlinski, Pawel; Dawidziuk, Mateusz; Wiszniewski, Wojciech; Bekiesinska-Figatowska, Monika; Cabet, Sara; Rossi, Massimiliano; Lesca, Gaetan; Gouy, Evan; Jepsen, Birgit; Mieszczanek, Tomasz S; Sanchez Russo, Rossana; Barr, Eileen E; Õunap, Katrin; Ilves, Pilvi; Wojcik, Monica H; Aittaleb, Mohamed; Brusgaard, Klaus; Tissir, Fadel; Rubboli, Guido

Adaptive evolution of Pseudomonas putida in the presence of fluoride exposes novel functions of a benzoate transporter

假单胞菌在氟化物存在下的适应性进化揭示了苯甲酸转运蛋白的新功能

Ets, Lea; Ilves, Heili; Juhe, Lisette; Ilmjärv, Tanel; Puiggené, Òscar; Nikel, Pablo Iván; Kivisaar, Maia

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S

Using Synthetic Health Care Data to Leverage Large Language Models for Named Entity Recognition: Development and Validation Study

利用合成医疗保健数据增强大型语言模型进行命名实体识别:开发与验证研究

Šuvalov, Hendrik; Lepson, Mihkel; Kukk, Veronika; Malk, Maria; Ilves, Neeme; Kuulmets, Hele-Andra; Kolde, Raivo

Remote Monitoring of Psoriasis: Comparing Care Models and Evaluating Quality of Life Outcomes: Mixed Methods Study

银屑病远程监测:比较护理模式并评估生活质量结果:混合方法研究

Arsenjeva, Jana; Kruus, Priit; Hallik, Riina; Matasova, Secil; Prett, Laura; Kaarna, Katrin; Raam, Liisi; Taul, Oliver; Ilves, Liis; Viljar, Kaisa; Konno, Pille; Ross, Peeter; Kingo, Külli

A conserved phosphorylation mechanism for regulating the interaction between the CMG replicative helicase and its forked DNA substrate.

一种保守的磷酸化机制,用于调节 CMG 复制解旋酶与其叉状 DNA 底物之间的相互作用

Koit Sandra, Tamberg Nele, Reinapae Allan, Peil Lauri, Kristjuhan Arnold, Ilves Ivar

Proteome changes associated with effect of high dose single-fractionation radiation on lung adenocarcinoma cell lines.

高剂量单次分割放射治疗对肺腺癌细胞系的影响及其相关的蛋白质组变化

Leis Elina, Modhukur Vijayachitra, Lust Helen, Vardja Markus, Saarma Merilin, Ilves Ivar, Pütsepp Margaret, Kopanchuk Sergei, Jaal Jana, Lavogina Darja

PAPASH Syndrome with a Pathogenic PSTPIP1 p.(Ala230Thr) Variant: A Case Report of Therapeutic Complexity

伴有致病性PSTPIP1 p.(Ala230Thr)变异的PAPASH综合征:一例治疗复杂性的病例报告

Tikka, Meri; Ilves, Tiina

Pituitary Gland Duplication Syndrome: An International Imaging Analysis

垂体重复综合征:一项国际影像学分析

Löbel, Ulrike; Catala, Martin; D'Arco, Felice; Lequin, Maarten H; Pasquariello, Rosa; Ilves, Pilvi; Loorits, Dagmar; Tähepõld, Annika; Pezzetti, Giulio; Craven, Ian; Severino, Mariasavina; Rossi, Andrea

Mutations in ribosomal protein uS5 alter translation fidelity and mutagenesis in Pseudomonas putida

核糖体蛋白uS5的突变会改变恶臭假单胞菌的翻译保真度和诱变能力。

Jürgenstein, Karl; Ilves, Heili; Luhaäär, Carol; Brauer, Age; Remme, Jaanus; Kivisaar, Maia