Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
40913078 (PubMed )
Supplement: NIHMS2114636-supplement-Supplemental_Table_S1.xlsx › Table_S1
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.
Villacis RAR et al.
International Journal of Molecular Sciences, 2024
39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S2
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s002.xlsx › adults_patients
Mitochondrial cardiomyopathy: a puzzle for the final diagnosis.
Constante AD et al.
Cardiology in the Young, 2024
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Kušíková K et al.
Frontiers in Pediatrics, 2021
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