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

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing

将 ABCD1 变异作为外显子组和基因组测序中可操作的次要发现进行报告

Dominguez Gonzalez, Carlos A; Spinner, Nancy B; Ahrens-Nicklas, Rebecca C; Young, Lisa R; Voss, Laura A; Reichert, Sara L; Gallo, Daniel J; Cohen, Julie S; Bonkowsky, Joshua L; Keller, Stephanie R; Bennett, Mariko L; Pizzino, Amy M; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L; Emerson, Felicity J; Miettunen, Kelly; Fatemi, Ali; Van Haren, Keith P; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline

Human Neuron and Mouse Models Reveal Synaptic Imbalance in Kabuki Syndrome

人类神经元和鼠模型揭示了歌舞伎综合征中的突触失衡

Wenninger, Anna; Knopp, James; Frye, Steven; Weaver, Alexander; McAdams, Neil; Miller, Sean; Nomura, Toshihiro; Whitlark, Ava; Swantkowski, Jack; Noble, Alexandra; Lavender, Caroline; Nam, Sandy; MacKenzie, Cameron; Wiebelt-Smith, Isabella; Sander, Charles; Hutson, Katharyn; Bergqvist-Patzke, Jenny; Sanders, Sheri; Haldar, Kasturi; Contractor, Anis; Patzke, Christopher

Nucleotide metabolism, leukodystrophies, and CNS pathology

核苷酸代谢、脑白质营养不良和中枢神经系统病理

Gavazzi, Francesco; Gonzalez, Carlos Dominguez; Arnold, Kaley; Swantkowski, Meghan; Charlton, Lauren; Modesti, Nicholson; Dar, Asif A; Vanderver, Adeline; Bennett, Mariko; Adang, Laura A