Iskalni niz:
išči po
išči po
išči po
išči po
Vrsta gradiva:
Jezik:
Št. zadetkov: 1
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Michael A. Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Maria Shvedunova, Mihael Rogač
Izvirni znanstveni članek
Oznake: MSL2;male-specific lethal complex;neurodevelopmental syndrome;epigenetics;autism;epilepsy;connective tissue;episignature;iPSC;
Epigenetic dysregulation has emerged as an important etiological mechanism of neurodevelopmental disorders (NDDs). Pathogenic variation in epigenetic regulators can impair deposition of histone post-translational modifications leading to aberrant spatiotemporal gene expression during neurodevelopmen ...
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 1
Ključne besede:
Leto izdaje:
Avtorji:
Repozitorij:
Tipologija:
Jezik: