Associated Papers
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.
Coukos A et al.
Hepatology Communications, 2024
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B et al.
Clinical Immunology (orlando, Fla.), 2023
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
van de Putte R et al.
Plos One, 2019
Select a paper to view details