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

Decoding the Unexpected: How Cell-Free DNA Sequencing Unveiled an Elusive Tularemia Case

解读意想不到的真相:无细胞DNA测序如何揭开一例难以捉摸的兔热病病例

Watson, Jack R; Syed, Rehan R; Salazar, Victor Manuel; Dahdouh, George; Bursalyan, Jacqueline; English, Anya; Ponce-Sanchez, Hector; Urrutia, Fernanda; Chan, Fiona; Dhamotharan, Mokshitaa; Gonzalez, Natalie; Messele, Bethlehem; Mohta, Saahil; Sah, Jyoti

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

DNAJB4基因功能缺失变异会导致肌病,并伴有早期呼吸衰竭。

Conrad C Weihl ,Ana Töpf ,Rocio Bengoechea ,Jennifer Duff ,Richard Charlton ,Solange Kapetanovic Garcia ,Cristina Domínguez-González ,Abdulaziz Alsaman ,Aurelio Hernández-Laín ,Luis Varona Franco ,Monica Elizabeth Ponce Sanchez ,Sarah J Beecroft ,Hayley Goullee ,Jil Daw ,Ankan Bhadra ,Heather True ,Michio Inoue ,Andrew R Findlay ,Nigel Laing ,Montse Olivé ,Gianina Ravenscroft ,Volker Straub