Results 91 to 100 of about 21,058 (168)

Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. [PDF]

NPJ Breast Cancer
Ullah E, Abdel-Razeq H, Bentebbal S, Shaar A, Alajez NM, Saad M, Decock J.   +6 more
europepmc   +1 more source

DNAJC6 Parkinson's disease: Endolysosomal dysfunction and emerging roles for oligodendrocytes. [PDF]

NPJ Parkinsons Dis
Allen AG, Stednitz S, Lardelli M, Barthelson K.   +3 more
europepmc   +1 more source

Actually, what is a gain-of-function mutation? [PDF]

Genetics
Warnecke T.
europepmc   +1 more source

Increased diameter of arteries and veins in the caudal fins of <i>Danio rerio</i> <i>longfin ^t2</i> fish is accompanied by fin overgrowth. [PDF]

MicroPubl Biol
Lanni JS, Lyon BW, Nguyen SV.
europepmc   +1 more source

Deep mutational scanning reveals pharmacologically relevant insights into TYK2 signaling and disease. [PDF]

Elife
Howard CJ, Abell NS, Warneford-Thomson RR, Mahdavi E, Su AL, Resnick C, Mohammed N, Thompson EM, Holzinger ER, Catalano K, Hukku A, Mintier GA, MacKenzie M, Jiang BL, Barbosa Rabago D, Chan A, Ntimi C, Weiler KN, Wilson SC, Maranville JC, Sheth PR, Plenge RM, Kosuri S, Dickel DE.   +23 more
europepmc   +1 more source

Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics. [PDF]

Annu Rev Genomics Hum Genet
El-Agamy SE, Mattedi F, Fratta P.
europepmc   +1 more source