Associated Papers
Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.
Isa HM et al.
Cureus, 2024
Gastrointestinal system involvement in patients with primary immunodeficiency: a single center experience.
Guler T et al.
Scandinavian Journal of Gastroenterology, 2024
The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism.
Kögel A et al.
Molecular Cell, 2022
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 2021
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C et al.
Bmc Medical Genetics, 2017
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