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

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

脑室周围结节性异位症中MAP1B基因的新生突变和遗传性私有变异

Heinzen, Erin L; O'Neill, Adam C; Zhu, Xiaolin; Allen, Andrew S; Bahlo, Melanie; Chelly, Jamel; Chen, Ming Hui; Dobyns, William B; Freytag, Saskia; Guerrini, Renzo; Leventer, Richard J; Poduri, Annapurna; Robertson, Stephen P; Walsh, Christopher A; Zhang, Mengqi

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

DVL1基因突变会导致骨硬化型罗宾诺综合征

Bunn Kieran J, Daniel Phil, Rösken Heleen S, O'Neill Adam C, Cameron-Christie Sophia R, Morgan Tim, Brunner Han G, Lai Angeline, Kunst Henricus P M, Markie David M, Robertson Stephen P

Human kidney cell reprogramming: applications for disease modeling and personalized medicine

人类肾细胞重编程:在疾病建模和个性化医疗中的应用

O'Neill, Adam C; Ricardo, Sharon D