[HTML][HTML] Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
HM Velasco, A Bertoli-Avella, CJ Jaramillo… - European Journal of …, 2024 - nature.com
Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic
diseases in developed countries. However, their implementation is limited in countries from …
diseases in developed countries. However, their implementation is limited in countries from …
Trimethylguanosine Cap-Fluorescent Molecular Rotor conjugates (TMG-FMR) are potent, specific snurportin1 ligands enabling visualization in living cells
P Surynt, BA Wojtczak, M Chromiński… - Organic & …, 2024 - pubs.rsc.org
Trimethylguanosine (TMG) cap is a motif present inter alia at the 5'end of small nuclear
RNAs, which are involved in RNA splicing. TMG cap plays a crucial role in RNA processing …
RNAs, which are involved in RNA splicing. TMG cap plays a crucial role in RNA processing …
[HTML][HTML] Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy
Methods The ClinGen Muscular Dystrophies and Myopathies gene curation expert panel
(MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the …
(MDM GCEP, formerly Limb Girdle Muscular Dystrophy GCEP) convened to evaluate the …