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

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

AMPD2 缺失导致胼胝体完全发育不全、小脑桥脑发育不全和轴突性神经病变

Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe C H Sim, Martin B Delatycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

SPRTN 基因突变导致早发性肝细胞癌、基因组不稳定性和早衰特征

Davor Lessel, Bruno Vaz, Swagata Halder, Paul J Lockhart, Ivana Marinovic-Terzic, Jaime Lopez-Mosqueda, Melanie Philipp, Joe C H Sim, Katherine R Smith, Judith Oehler, Elisa Cabrera, Raimundo Freire, Kate Pope, Amsha Nahid, Fiona Norris, Richard J Leventer, Martin B Delatycki, Gotthold Barbi, Simon

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

RAB39B 突变可导致 X 连锁智力障碍和伴有 α-突触核蛋白病理的早发性帕金森病

Gabrielle R Wilson, Joe C H Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Jessica R Riseley, Sarah E M Stephenson, Elizabeth Fitzpatrick, Stefan A Haas, Kate Pope, Kirk J Hogan, Ronald G Gregg, Catherine J Bromhead, David S Wargowski, Christopher H Lawrence, Paul A James, Andrew Churchya