Results 41 to 50 of about 227 (76)

Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa. [PDF]

BMC Med Genet, 2017
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M.   +13 more
europepmc   +1 more source

Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant. [PDF]

BMJ Case Rep
Bharadwaj SK, Mathai SS, Bhargava S, Lewis LES.   +3 more
europepmc   +1 more source

Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair. [PDF]

Skin Appendage Disord, 2021
Gaurav V, Grover C.
europepmc   +1 more source

Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review. [PDF]

Front Pediatr, 2023
Li J, Sun M, Guo J, Xu L.
europepmc   +1 more source

Molecular Biomarker Identification Using a Network-Based Bioinformatics Approach That Links COVID-19 With Smoking. [PDF]

Bioinform Biol Insights, 2023
Rahman MA, Amin MA, Yeasmin MN, Islam MZ, Islam MZ.   +4 more
europepmc   +1 more source

P278: Severe secretory diarrhea investigated by genome sequencing and RNA-seq yields ultrarare diagnosis of trichohepatoenteric syndrome (THES)

Genetics in Medicine Open
Jacqueline Yurkoski, Daniel Koboldt, Ethan Mezoff, William Burns, Bimal Chaudhari   +4 more
doaj   +1 more source

The differential diagnoses for severe enteropathy or severely damaged small intestinal mucosa. [PDF]

Gastroenterol Hepatol Bed Bench, 2023
Jian CLA, Hayman DTS, Lockett B, Rostami K.   +3 more
europepmc   +1 more source

The RNA exosome: mechanisms of RNA surveillance, regulation, and disease. [PDF]

RNA Biol
Upadhyai P, Quadri N, Chandran D.
europepmc   +1 more source

PytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases. [PDF]

Intractable Rare Dis Res
Percheron A, Guerry P, Fabre A.
europepmc   +1 more source

Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective. [PDF]

Hum Mol Genet
Dack K, Ludwig KU, Stergiakouli E, Sandy J, Aryee S, Davey Smith G, Davies A, Wren Y, Sharp GC, Humphries K, Mangold E, Goudswaard L, Ho K, Dudding T, Lewis SJ.   +14 more
europepmc   +1 more source