FERNANDO SCAGLIA to Sequence Analysis, DNA
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Sequence Analysis, DNA.
Connection Strength
0.338
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Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480.
Score: 0.104
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.089
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Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83.
Score: 0.069
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Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. Am J Med Genet A. 2003 Dec 01; 123A(2):172-8.
Score: 0.035
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Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61.
Score: 0.017
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Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat. 2010 Dec; 31(12):1326-42.
Score: 0.014
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Epimerase-deficiency galactosemia is not a binary condition. Am J Hum Genet. 2006 Jan; 78(1):89-102.
Score: 0.010