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

DHDDS and NUS1: A Converging Pathway and Common Phenotype

DHDDS 和 NUS1:一条汇聚的通路和共同的表型

Williams, Laura J; Waller, Sophie; Qiu, Jessica; Innes, Emily; Elserafy, Noha; Procopis, Peter; Sampaio, Hugo; Mahant, Neil; Tchan, Michel C; Mohammad, Shekeeb S; Morales-Briceño, Hugo; Fung, Victor S C

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

GLRX5相关[Fe-S]簇生物合成障碍:神经表型和长期预后的进一步表征

Sankaran, Bindu Parayil; Gupta, Sachin; Tchan, Michel; Devanapalli, Beena; Rahman, Yusof; Procopis, Peter; Bhattacharya, Kaustuv

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

一名患者携带两个莱氏综合征致病基因的纯合无义突变:如何区分双重诊断与功能减弱型蛋白截短突变

Lake, Nicole J; Formosa, Luke E; Stroud, David A; Ryan, Michael T; Calvo, Sarah E; Mootha, Vamsi K; Morar, Bharti; Procopis, Peter G; Christodoulou, John; Compton, Alison G; Thorburn, David R

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

PET100 的创始突变导致患有 Leigh 综合征的黎巴嫩患者出现单独的复合物 IV 缺陷

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Disseminated invasive infection due to Metarrhizium anisopliae in an immunocompromised child

免疫功能低下儿童因绿僵菌引起的播散性侵袭性感染

Burgner, D; Eagles, G; Burgess, M; Procopis, P; Rogers, M; Muir, D; Pritchard, R; Hocking, A; Priest, M

X-linked mental retardation associated with macro-orchidism

与睾丸肥大相关的X连锁智力低下

Turner, G; Eastman, C; Casey, J; McLeay, A; Procopis, P; Turner, B