Keyword search (3,619 papers available)


A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.

Author(s): Al-Deri N, Okur V, Ahimaz P, Milev M, Valivullah Z, Hagen J, Sheng Y, Chung W, Sacher M, Ganapathi M...

BACKGROUND: Next-generation sequencing has facilitated the diagnosis of neurodevelopmental disorders with variable and non-specific clinical findings. Recently, a homozygous missense p.(Asp37Tyr) v...

Article GUID: 32843486
Laser-induced micropore formation and modification of cartilage structure in osteoarthritis healing.

Author(s): Sobol E, Baum O, Shekhter A, Wachsmann-Hogiu S, Shnirelman A, Alexandrovskaya Y, Sadovskyy I, Vinokur V

J Biomed Opt. 2017 09 01;22(9):91515 Authors: Sobol E, Baum O, Shekhter A, Wachsmann-Hogiu S, Shnirelman A, Alexandrovskaya Y, Sadovskyy I, Vinokur V

Article GUID: 28564689