SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

Autor: Karla AR; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Pinard A; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Boerio ML; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Hemelsoet D; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Tavernier SJ; Department of Internal Medicine and Pediatrics, Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Center, Ghent University Hospital, Ghent, Belgium., De Pauw M; Department of Cardiology, Ghent University Hospital, Ghent, Belgium., Vereecke E; Department of Radiology, Ghent University Hospital, Ghent, Belgium., Fraser S; Division of Child Neurology, Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Milewicz DM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63486. Date of Electronic Publication: 2023 Dec 01.

P2Y6 Receptor-Dependent Microglial Phagocytosis of Synapses during Development Regulates Synapse Density and Memory.

Autor: Dundee, Jacob M., Puigdellívol, Mar, Butler, Richard, Brown, Guy C.

Publikováno v: Journal of Neuroscience; 11/29/2023, Vol. 43 Issue 48, p8090-8103, 14p

High-content synaptic phenotyping in human cellular models reveals a role for BET proteins in synapse assembly.

Autor: Berryer, Martin H., Rizki, Gizem, Nathanson, Anna, Klein, Jenny A., Trendafilova, Darina, Susco, Sara G., Lam, Daisy, Messana, Angelica, Holton, Kristina M., Karhohs, Kyle W., Cimini, Beth A., Pfaff, Kathleen, Carpenter, Anne E., Rubin, Lee L., Barrett, Lindy E.

Publikováno v: eLife; 4/21/2023, p1-31, 31p

„Kannski erum við orðnar svo miklar strákastelpur að það haga sér allir eins“.

Autor: Snaefrídar, Hrafnhildur¹ hrafnhildur@gmail.com, Einarsdóttir, þorgerður¹ einarsd@hi.is

Publikováno v: Timarit um menntarannsoknir / Journal of Educational Research (Iceland). 2011, Vol. 8, p103-123. 21p.

Shantaram. Volumul 1

Autor: Gregory David Roberts

Într-un formidabil roman de inspirație autobiografică, Gregory David Roberts spune povestea australianului Lindsay, unul dintre cei mai vânați oameni ai planetei. Dependent de heroină și încarcerat pentru jaf armat, Lindsay evadează și se s