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PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul   +5 more
wiley   +1 more source

Case of Congenital (Esophageal Stenosis [PDF]

open access: bronze, 1913
Eric Pritchard, Douglas Drew
openalex   +1 more source

Endoscopic management of complications of self-expandable metal stents for treatment of malignant esophageal stenosis and tracheoesophageal fistulas [PDF]

open access: hybrid, 2017
Renáta Bor   +9 more
openalex   +1 more source

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