Results 291 to 300 of about 81,818 (357)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Super-Robust Telecommunications Enabled by Topological Half-Supermodes. [PDF]

Adv Sci (Weinh)
Zhou R, Shi X, Lin H, Ren Y, Liu H, Yu Z, Jin J, Lan Z, Chen MLN.   +8 more
europepmc   +1 more source

Optimiranje proizvodnega procesa v podjetju TPV Johnson Controls, d.o.o. : diplomsko delo visokošolskega strokovnega študija

, 2008
Kink, Igor Emanuel
core  

Koopman-von Neumann and Weyl-Wigner Phase-Space Formulation of Inviscid Euler Flows. [PDF]

Entropy (Basel)
Molnar SM, Godfrey JR.
europepmc   +1 more source

Identification of 3D motifs in Rfam with JAR3D. [PDF]

RNA
Roll J, Zirbel CL.
europepmc   +1 more source

Innovative solutions for lossy nonlinear transmission lines model using a modified extended mapping approach with fractional effects. [PDF]

Sci Rep
Hussein HH, Alexan W, Kandil SA.
europepmc   +1 more source

Bifurcation, chaotic behavior, sensitivity analysis, and dynamical investigations of third-order Schrödinger equation using new auxiliary equation method. [PDF]

Sci Rep
Fatima M, Abbas M, Arko YAS, Nazir T, Birhanu A, Yousaf MZ.   +5 more
europepmc   +1 more source

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Geometry of kink microstructure analysed by rank-1 connection

Acta Materialia, 2019
The kinematical relationships among the geometric quantities that characterise kink bands, ridge kinks, and ortho kinks and the existence of disclinations in connecting kink bands were revealed based on the rank-1 connection, which is a condition of the ...
Tomonari Inamura
exaly   +2 more sources