Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.
Zhu B et al.
Frontiers in Oncology, 2024
38894864 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Candela E et al.
Children (basel, Switzerland), 2023
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Alaimo JT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32439973 (PubMed )
Supplement: NIHMS1603460-supplement-Supplemental_Data.xlsx › Supplementary_Table_2
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Abdrabo LS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
Traboulsee AL et al.
Human Genetics, 2017
The association between c.1333C > T genetic polymorphism of MTHFR gene and the risk of congenital heart diseases.
Wang Q et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2014
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