Results 121 to 130 of about 9,210 (209)

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss. [PDF]

Eur J Hum Genet, 2022
Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF.   +8 more
europepmc   +1 more source

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome. [PDF]

Mol Ther Nucleic Acids
García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM.   +14 more
europepmc   +1 more source

Specific features of ß-catenin-mutated hepatocellular carcinomas. [PDF]

Br J Cancer
Dantzer C, Dif L, Vaché J, Basbous S, Billottet C, Moreau V.   +5 more
europepmc   +1 more source

Integrated Colorisensing Platform with Microneedles and Metal-Phenol Nanozymes for Point-of-Care Testings of Acetylcholinesterase Activity and Its Drug Inhibitor. [PDF]

Int J Nanomedicine
Chen E, Chang P, Xu H, Xu H, Zhu Z, Shen D.   +5 more
europepmc   +1 more source

Correction to: L'allergie aux protéines du lait de vache chez les nourrissons et les enfants. [PDF]

Paediatr Child Health
europepmc   +1 more source

How tumors escape the immune system. [PDF]

Elife
Schmieder S.
europepmc   +1 more source

Diagnostic et prise en charge de l’œsophagite à éosinophiles. [PDF]

CMAJ
Gupta M, Grinman M.
europepmc   +1 more source

RPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women. [PDF]

Hum Genet
Fabard M, Devos A, Poncet AF, Meneboo JP, Figeac M, Villenet C, Drumare I, Defoort-Dhellemmes S, Meunier I, Zanlonghi X, Grunewald O, Huin V, Lecigne C, Smirnov V, Dhaenens CM.   +14 more
europepmc   +1 more source

Work-related open globe injuries: demographic characteristics and prognostic factors in southern Tunisia. [PDF]

Tunis Med
Ben Abid A, Rekik M, Kammoun S, Kaibi I, Ben Amor S, Trigui A.   +5 more
europepmc   +1 more source