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

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

纳米孔长读长测序在肌营养不良症诊断中的能力

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B

Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

通过对基因组外显子组数据进行计算机分析,鉴定出ATP2A1基因中的致病突变,该突变涉及隐蔽的异常剪接位点。

Bruels, Christine C; Li, Chengcheng; Mendoza, Tonatiuh; Khan, Jamillah; Reddy, Hemakumar M; Estrella, Elicia A; Ghosh, Partha S; Darras, Basil T; Lidov, Hart G W; Pacak, Christina A; Kunkel, Louis M; Modave, François; Draper, Isabelle; Kang, Peter B

Transcriptional profiling and biological pathway analysis of human equivalence PCB exposure in vitro: indicator of disease and disorder development in humans

体外人体等效 PCB 暴露的转录谱和生物通路分析:人类疾病和紊乱发展的指标

Somiranjan Ghosh, Partha S Mitra, Christopher A Loffredo, Tomas Trnovec, Lubica Murinova, Eva Sovcikova, Svetlana Ghimbovschi, Shizhu Zang, Eric P Hoffman, Sisir K Dutta

Efficient gene delivery vectors by tuning the surface charge density of amino acid-functionalized gold nanoparticles

通过调节氨基酸功能化金纳米粒子的表面电荷密度来构建高效基因递送载体

Ghosh, Partha S; Kim, Chae-Kyu; Han, Gang; Forbes, Neil S; Rotello, Vincent M