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

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

鉴定和表征一种罕见的 MTTP 变异体,该变异体是遗传性非酒精性脂肪肝疾病的基础

Grove Jane I, Lo Peggy C K, Shrine Nick, Barwell Julian, Wain Louise V, Tobin Martin D, Salter Andrew M, Borkar Aditi N, Cuevas-Ocaña Sara, Bennett Neil, John Catherine, Ntalla Ioanna, Jones Gabriela E, Neal Christopher P, Thomas Mervyn G, Kuht Helen, Gupta Pankaj, Vemala Vishwaraj M, Grant Allister, Adewoye Adeolu B, Shenoy Kotacherry T, Balakumaran Leena K, Hollox Edward J, Hannan Nicholas R F, Aithal Guruprasad P

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

伴或不伴脉络膜视网膜病变、淋巴水肿或智力低下的小头畸形(MCLMR):KIF11 突变相关表型的回顾

Jones, Gabriela E; Ostergaard, Pia; Moore, Anthony T; Connell, Fiona C; Williams, Denise; Quarrell, Oliver; Brady, Angela F; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S; Vasudevan, Pradeep C; Mansour, Sahar