Associated Papers
Bicuspid Aortic Valve: Old and Novel Gene Contribution to Disease Onset and Complications.
Sticchi E et al.
Diagnostics (basel, Switzerland), 2025
Rare FN1 missense mutations indicate a protective role against Lewy body dementia in APOEε4 homozygous carriers.
Reho P et al.
Acta Neuropathologica, 2025
Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics.
Colombini A et al.
Genes, 2025
40725395 (PubMed )
Supplement: genes-16-00738-s001.zip › genes-3684846-supplementary.pdf
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
37784196 (PubMed )
Supplement: 13104_2023_6491_MOESM1_ESM.xlsx › Supplementary_Table_4
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA et al.
Cold Spring Harbor Molecular Case Studies, 2020
A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism.
D Hidalgo-Santos A et al.
International Journal of Endocrinology and Metabolism, 2018
30323850 (PubMed )
Supplement: ijem-16-03-67329-s001.pdf
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