Associated Papers
Genetic disease amongst the Plain community.
Mascia KL
Current Opinion in Pediatrics, 2024
Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
Baxter SK et al.
The Journal of Allergy and Clinical Immunology, 2022
Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation.
Ghaloul-Gonzalez L et al.
Scientific Reports, 2019
31673062 (PubMed )
Supplement: 41598_2019_51922_MOESM1_ESM.pdf
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.
Lohr NJ et al.
American Journal of Human Genetics, 2010
Select a paper to view details