Results 111 to 120 of about 1,366 (180)

N-Glycanase-1-Mangel – Charakterisierung von Genvarianten [PDF]

N-Glycanase-1-Mangel ist eine kongenitale Störung der Deglykosylierung. Die Krankheit ist durch fünf Kernsymptome geprägt: globale Entwicklungsverzögerung, Choreoathetose, Erhöhung von Leberwerten in Blutuntersuchungen, Hypo-/Alakrimie und eine ...
Orczyk, Ralph Rene
core   +2 more sources

Additional file 1 of NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry

Additional file 1. Supplementary Tables 1–3 and Supplementary Figures 1–3.
Stanclift, Caroline R., Dwight, Selina S., Lee, Kevin, Eijkenboom, Quirine L., Wilsey, Matt, Wilsey, Kristen, Kobayashi, Erica Sanford, Tong, Sandra, Bainbridge, Matthew N.   +8 more
openaire   +1 more source

The importance of dynamic reanalysis In diagnostic whole exome sequencing [PDF]

, 2016
Goldstein, DB, Need, AC, Petrovski, SP, Schoch, K, Shashi, V   +4 more
core   +1 more source

AAV9-TAZ gene replacement ameliorates cardiac TMT proteomic profiles in a mouse model of Barth syndrome [PDF]

, 2019
Byrne, Barry J., Cade, W. Todd, Kang, Peter B., Pacak, Christina A., Saha, Madhurima, Soustek, Meghan S., Suzuki-Hatano, Silveli   +6 more
core   +2 more sources

Interplay Between Signaling and Splicing During T Cell Activation: A Study on Mkk7 [PDF]

, 2015
Alternative splicing is a mechanism of gene regulation that expands the genome\u27s coding capacity. The ability to regulate alternative splicing in response to external signals is critical for immune responses.
Martinez, Nicole M
core   +1 more source

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, Petrusheva, Dragana, Bogeva, Elena, Ivanova, Violeta, Hann, Stephan   +4 more
core  

Glycosylation defects in lipid metabolism [PDF]

, 2020
van den Boogert, M.A.W.
core   +2 more sources

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., Hunter, Lawrence E., Pielke-Lombardo, Harrison, Tripodi, Ignacio J.   +3 more
core  

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +1 more source