Results 91 to 100 of about 811 (146)
An in vivo small molecule screen to identify therapeutics for NGLY1 deficiency
, 2020 Presentation of poster 1993A at TAGC 2020 Online. Files include a PDF of the poster (TAGC_2020_Poster_Hope_Final.pdf)
Hope, Kevin A. +2 more
openaire +1 more source
AAV9-TAZ gene replacement ameliorates cardiac TMT proteomic profiles in a mouse model of Barth syndrome [PDF]
, 2019 Byrne, Barry J. +6 more
core +2 more sources
Incorporating standardised drift-tube ion mobility to enhance non-targeted assessment of the wine metabolome (LC×IM-MS) [PDF]
, 2017 Liquid chromatography with drift-tube ion mobility spectrometry-mass spectrometry (LCxIM-MS) is emerging as a powerful addition to existing LC-MS workflows for addressing a diverse range of metabolomics-related questions [1,2].
Causon, Tim +4 more
core
Knowledge-based Biomedical Data Science 2019
, 2019 Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine.
Callahan, Tiffany J. +3 more
core
Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R. +8 more
openaire +1 more source
Studium dědičných poruch glykosylace na biochemické a molekulární úrovni. [PDF]
, 2016 Dědičné poruchy glykosylace (Congenital disorders of glycosylation, CDG) jsou rychle rostoucí skupinou vzácných dědičných metabolických poruch s prevalencí až 1:20 000, které jsou zapříčiněny genetickými defekty narušujícími proces glykosylace, tj ...
Ondrušková, Nina
core +3 more sources
2025 SOARS Conference Program [PDF]
Program for the 2025 Showcase of Osprey Advancements in Research and Scholarship ...
UNF Office of Undergraduate Research
core
Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community [PDF]
Background: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Dos Reis Ferreira, Vanessa +10 more
core +2 more sources
Glucocorticoid regulation throughout childhood: developmental aspects [PDF]
, 2022 van Keulen, Britt Joan
core