Associated Papers
Clinicopathological and molecular genomic features of monomorphic epitheliotropic intestinal T-cell lymphoma in the Chinese population: a study of 20 cases.
Chen C et al.
Diagnostic Pathology, 2021
34895266 (PubMed )
Supplement: 13000_2021_1173_MOESM1_ESM.xlsx › ST1
Literature review on congenital glucose-galactose malabsorption from 2001 to 2019.
Wang W et al.
Journal of Paediatrics and Child Health, 2020
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Cannizzaro M et al.
Journal of Applied Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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
Congenital glucose-galactose malabsorption: A rare and severe cause of infant diarrhea.
Pascual Pérez AI et al.
Medicina Clinica, 2019
Genetic Variants in SGLT1, Glucose Tolerance, and Cardiometabolic Risk.
Seidelmann SB et al.
Journal of the American College of Cardiology, 2018
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish.
Xin B et al.
Clinical Genetics, 2011
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