Results 121 to 130 of about 40,152 (210)

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy. [PDF]

NPJ Genom Med
Spirito G, Trova S, Treves G, Farmanli K, Canonico MF, Fant A, Marangoni S, Furia F, Charrance D, Locci N, Gottardo S, Groppo F, Perseghin V, Toscano M, Bibbò E, Dontin SD, Cargnelutti C, Colliard M, Rosina A, Beoni AM, Bérard C, Coppe A, Serravalle P, Landuzzi F, Musacchia F, Amoroso A, Sanges R, Cavalli A, Vecchi M, Obino L, Gustincich S.   +30 more
europepmc   +1 more source

Receptor-Dependent and -Independent Effects of Hemin on Platelet Plasma Membrane Disintegration. [PDF]

FASEB J
Laspa Z, Rohlfing AK, Hochuli R, Sowa PW, Castor T, Gawaz MP.   +5 more
europepmc   +1 more source

Integration of Biochar into Soil Unravels Protective Mechanisms Against Plastic-Induced Stress in <i>Lens culinaris</i> by Modulating Physiological Traits, Antioxidant Defense, and Methylglyoxal Detoxification Systems. [PDF]

Plants (Basel)
Kapoor RT, Hasanuzzaman M.
europepmc   +1 more source

Novel HCFC1 variants identified in patients with ASD/ADHD and previously unreported structural brain malformations reveal the potential for phenotypic expansion. [PDF]

Mol Genet Metab Rep
Castro VL, Palomino CE, O'Shea J, Ames E, Frazier L, Pritchard A, Lesmana H, Rosas-Acosta G, Swann MJ, Quintana AM.   +9 more
europepmc   +1 more source

Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients. [PDF]

Sci Rep
Salehi M, Ahanchian H, Karimiani EG, Aelami MH, Moazzen N, Neshati Z, Pasdar A.   +6 more
europepmc   +1 more source

Functional Characterization of Glucokinase Variants to Aid Clinical Interpretation of Monogenic Diabetes. [PDF]

Int J Mol Sci
Rajesh V, Ibarra DE, Yang J, Zhang H, Barrett A, Kaplan EG, Kumthekar A, Sunden F, Sun H, Addala A, Misakian A, Letourneau-Freiberg LR, Jodarski CO, Maloney KA, Saint-Martin C, Fordyce PM, Pollin TI, Gloyn AL.   +17 more
europepmc   +1 more source

Sex-stratified genetic regulators of cytokine production in the Dutch and Tanzanian populations. [PDF]

HGG Adv
Amour C, Cetatean R, Ponce IR, Keur N, Temba GS, Kullaya VI, Mmbaga BT, Kavishe R, Joosten LAB, Netea MG, de Mast Q, Boahen CK, Kumar V.   +12 more
europepmc   +1 more source

Germline mutational landscape in a large cohort of Indian breast cancer. [PDF]

BMC Cancer
Peter J, Jolly B, Raha R, Jothi J, Chakraborty A, Raman SG, Radhakrishnan S, Sivasubbu S, Scaria V, Mahalingam S.   +9 more
europepmc   +1 more source

Simulation of the Melt Conveying Zone of a Single-Screw Extruder for Mixed Polymer Materials Using an Isothermal Analytical Flat Plate Model. [PDF]

Polymers (Basel)
Wagner E, Kneidinger C, Burgstaller C, Zitzenbacher G.   +3 more
europepmc   +1 more source