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

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis

验证用于广泛临床遗传诊断的综合性长读长测序平台

Sen, Siddhartha; Handler, Hillary P; Victorsen, Alec; Flaten, Zach; Ellison, Aidan; Knutson, Todd P; Munro, Sarah A; Martinez, Ryan J; Billington, Charles John; Laffin, Jennifer J; Bray, Sarah; Mroz, Pawel; Yohe, Sophia; Nelson, Andrew C; Bower, Matthew; Thyagarajan, Bharat

Increased intrinsic membrane excitability is associated with olivary hypertrophy in spinocerebellar ataxia type 1.

脊髓小脑性共济失调 1 型与橄榄核肥大有关,而橄榄核肥大与内在膜兴奋性增加有关

Morrison Logan M, Huang Haoran, Handler Hillary P, Fu Min, Jones Deborah M, Bushart David D, Pappas Samuel S, Orr Harry T, Shakkottai Vikram G