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

Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

婴儿期起病的肌阵挛性发育和癫痫性脑病:一种新的RARS2表型

de Valles-Ibáñez, Guillem; Hildebrand, Michael S; Bahlo, Melanie; King, Chontelle; Coleman, Matthew; Green, Timothy E; Goldsmith, John; Davis, Suzanne; Gill, Deepak; Mandelstam, Simone; Scheffer, Ingrid E; Sadleir, Lynette G

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

发育性和癫痫性脑病:基因诊断对家庭的个人意义

Jeffrey, Jennifer S; Leathem, Janet; King, Chontelle; Mefford, Heather C; Ross, Kirsty; Sadleir, Lynette G

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

遗传性RORB致病变异:光敏性遗传性全身性癫痫和枕叶癫痫的重叠

Sadleir, Lynette G; de Valles-Ibáñez, Guillem; King, Chontelle; Coleman, Matthew; Mossman, Stuart; Paterson, Sarah; Nguyen, John; Berkovic, Samuel F; Mullen, Saul; Bahlo, Melanie; Hildebrand, Michael S; Mefford, Heather C; Scheffer, Ingrid E

Double somatic mosaicism in a child with Dravet syndrome

患有Dravet综合征的儿童出现双重体细胞嵌合现象

Muir, Alison M; King, Chontelle; Schneider, Amy L; Buttar, Aman S; Scheffer, Ingrid E; Sadleir, Lynette G; Mefford, Heather C

Structural basis of autoregulatory scaffolding by apoptosis signal-regulating kinase 1

凋亡信号调节激酶1介导的自调节支架的结构基础

Weijman, Johannes F; Kumar, Abhishek; Jamieson, Sam A; King, Chontelle M; Caradoc-Davies, Tom T; Ledgerwood, Elizabeth C; Murphy, James M; Mace, Peter D

AKT-independent signaling downstream of oncogenic PIK3CA mutations in human cancer

人类癌症中致癌性PIK3CA突变下游的AKT非依赖性信号传导

Vasudevan, Krishna M; Barbie, David A; Davies, Michael A; Rabinovsky, Rosalia; McNear, Chontelle J; Kim, Jessica J; Hennessy, Bryan T; Tseng, Hsiuyi; Pochanard, Panisa; Kim, So Young; Dunn, Ian F; Schinzel, Anna C; Sandy, Peter; Hoersch, Sebastian; Sheng, Qing; Gupta, Piyush B; Boehm, Jesse S; Reiling, Jan H; Silver, Serena; Lu, Yiling; Stemke-Hale, Katherine; Dutta, Bhaskar; Joy, Corwin; Sahin, Aysegul A; Gonzalez-Angulo, Ana Maria; Lluch, Ana; Rameh, Lucia E; Jacks, Tyler; Root, David E; Lander, Eric S; Mills, Gordon B; Hahn, William C; Sellers, William R; Garraway, Levi A

p85 Associates with unphosphorylated PTEN and the PTEN-associated complex

p85 与未磷酸化的 PTEN 和 PTEN 相关复合物结合

Rosalia Rabinovsky, Panisa Pochanard, Chontelle McNear, Saskia M Brachmann, Jonathan S Duke-Cohan, Levi A Garraway, William R Sellers