Results 141 to 150 of about 9,025 (227)

Toxocariasis Found after Banning Beef Liver Sashimi in Japan

open access: yesNihon Naika Gakkai Zasshi, 2019
Wataru Sugi   +9 more
openaire   +2 more sources

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

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

Biallelic variants in the <i>UTRN</i> gene cause a novel form of multiple congenital arthrogryposis. [PDF]

open access: yesFront Genet
Melnik E   +9 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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