Results 111 to 120 of about 3,449 (171)

Assessing allergenic potential, exposure and risk of <i>Anisakis</i> spp. [PDF]

open access: yesEFSA J
Majstorović J   +3 more
europepmc   +1 more source

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders. [PDF]

open access: yesEur J Hum Genet
Jaramillo Oquendo C   +16 more
europepmc   +1 more source

Adamts4 coordinates the transcriptomic profile of primary rat costal chondrocytes. [PDF]

open access: yesStem Cells Transl Med
Wei Z   +9 more
europepmc   +1 more source

Paired DNA/RNA testing uncovers a deep intronic <i>PTEN</i> pathogenic variant associated with clinical Cowden Syndrome: a case report. [PDF]

open access: yesFront Oncol
Hall MJ   +7 more
europepmc   +1 more source

The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis. [PDF]

open access: yesJ Cancer Res Clin Oncol
Jelsig AM   +7 more
europepmc   +1 more source

Cracking rare disorders: a new minimally invasive RNA-seq protocol. [PDF]

open access: yesNPJ Genom Med
De Cock L   +20 more
europepmc   +1 more source

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