CARLOS BACINO to Skin
This is a "connection" page, showing publications CARLOS BACINO has written about Skin.
Connection Strength
0.326
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Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021 01 04; 131(1).
Score: 0.125
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Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect. Mol Genet Genomic Med. 2019 09; 7(9):e844.
Score: 0.113
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5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease. Am J Med Genet A. 2016 Mar; 170(3):688-93.
Score: 0.088