Results 201 to 210 of about 69,317 (259)

Start Right to End Right: Authentic Open Reading Frame Selection Matters for Nonsense-Mediated Decay Target Identification. [PDF]

Genes (Basel)
Bagherian M, Harris G, Sathishkumar P, Lloyd JPB.   +3 more
europepmc   +1 more source

Genotype-guided conservative management of mesenteric desmoid tumors: A case report of intermediate-region APC mutations. [PDF]

Medicine (Baltimore)
Huang N, Shi G, Luo XL.
europepmc   +1 more source

Clinical characteristics and gene mutation analysis of a family with hereditary spastic paraplegia type 11: a case report. [PDF]

J Med Case Rep
Luo A, Luo Z, Xu Z, Liao S.
europepmc   +1 more source

Variant identification and genotyping strategy for the <i>smg-1(r861)</i> allele in <i>Caenorhabditis elegans</i>. [PDF]

MicroPubl Biol
Zoberman M, Calarco JA.
europepmc   +1 more source

A case report of congenital sideroblastic anemia caused by a novel ALAS2 mutation in conjunction with thalassemia. [PDF]

Ann Hematol
Chen ZX, Yang LY, Wang LT, Chen BY, Liang JL, Liu LL, Yu XH.   +6 more
europepmc   +1 more source

Case Report: A novel de novo SPI1 mutation identified in a Chinese patient with agammaglobulinemia. [PDF]

Front Immunol
Peng Q, Deng M, Zeng X, Cheng Q, Xie M, Li S, Lu X.   +6 more
europepmc   +1 more source

Biallelic MINAR2 variant is associated with nonsyndromic severe to profound sensorineural hearing loss. [PDF]

Hum Genome Var
Almontashiri NAM.
europepmc   +1 more source

Ribosomal read through as an alternative therapy for patients with hemophilia with nonsense mutations. [PDF]

J Thromb Haemost
Liu Z, Srivastava V, Hussain A, Zhang B.
europepmc   +1 more source

Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review. [PDF]

Front Pediatr
Cheng P, Wang G, Qiu J, Xie X, An Y.
europepmc   +1 more source

Nonsense-mediated mRNA decay: a key regulatory system engaged in cancer. [PDF]

Cell Commun Signal
Pan H, Wu X, Hu B, Xiong H, Luo Y, Zhou JK.   +5 more
europepmc   +1 more source