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

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy

患有 SCN2A 功能获得和丧失的发育性癫痫性脑病患者的 iPSC 衍生神经元具有独特的体外表型

Miaomiao Mao, Cristiana Mattei, Ben Rollo, Sean Byars, Claire Cuddy, Geza Berecki, Jacqueline Heighway, Svenja Pachernegg, Trevelyan Menheniott, Danielle Apted, Linghan Jia, Kelley Dalby, Alex Nemiroff, Saul Mullen, Christopher A Reid, Snezana Maljevic, Steven Petrou

Feasibility of Lipid Screening During First Trimester of Pregnancy to Identify Women at Risk of Severe Dyslipidemia

妊娠早期血脂筛查在识别重度血脂异常高危女性中的可行性

Golwala, Sohil; Dolin, Cara D; Nemiroff, Richard; Soffer, Daniel; Denduluri, Srinivas; Jacoby, Douglas; Lewey, Jennifer

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model

反义寡核苷酸疗法可减少 SCN2A 功能获得性癫痫模型中的癫痫发作并延长寿命

Melody Li, Nikola Jancovski, Paymaan Jafar-Nejad, Lisseth E Burbano, Ben Rollo, Kay Richards, Lisa Drew, Alicia Sedo, Jacqueline Heighway, Svenja Pachernegg, Armand Soriano, Linghan Jia, Todd Blackburn, Blaine Roberts, Alex Nemiroff, Kelley Dalby, Snezana Maljevic, Christopher A Reid, Frank Rigo, St

Racial/Ethnic Disparities in Screening for and Awareness of High Cholesterol Among Pregnant Women Receiving Prenatal Care

接受产前护理的孕妇中,高胆固醇筛查和认知方面的种族/民族差异

Mszar, Reed; Gopal, Dipika J; Chowdary, Rupa; Smith, Cara Lea; Dolin, Cara D; Irwin, Melinda L; Soffer, Daniel; Nemiroff, Richard; Lewey, Jennifer

Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus

多能干细胞揭示 GATA1 N 端的红细胞特异性活性

Marta Byrska-Bishop, Daniel VanDorn, Amy E Campbell, Marisol Betensky, Philip R Arca, Yu Yao, Paul Gadue, Fernando F Costa, Richard L Nemiroff, Gerd A Blobel, Deborah L French, Ross C Hardison, Mitchell J Weiss, Stella T Chou

Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells

通过诱导多能干细胞揭示人类原始造血中 21 三体相关缺陷

Stella T Chou, Marta Byrska-Bishop, Joanna M Tober, Yu Yao, Daniel Vandorn, Joanna B Opalinska, Jason A Mills, John Kim Choi, Nancy A Speck, Paul Gadue, Ross C Hardison, Richard L Nemiroff, Deborah L French, Mitchell J Weiss

Cecocentral scotoma as the initial manifestation of subacute bacterial endocarditis

盲肠中心暗点是亚急性细菌性心内膜炎的首发表现

Strauss, Danielle Savitsky; Baharestani, Samuel; Nemiroff, Julia; Amesur, Kiran; Howard, David

Trisomy 21 enhances human fetal erythro-megakaryocytic development

21三体综合征增强人类胎儿红系巨核细胞发育

Chou, Stella T; Opalinska, Joanna B; Yao, Yu; Fernandes, Myriam A; Kalota, Anna; Brooks, John S J; Choi, John K; Gewirtz, Alan M; Danet-Desnoyers, Gwenn-ael; Nemiroff, Richard L; Weiss, Mitchell J