Co-Authors
This is a "connection" page, showing publications co-authored by FERNANDO SCAGLIA and MIR REZA BEKHEIRNIA.
Connection Strength
1.276
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. BMC Neurol. 2024 Mar 04; 24(1):87.
Score: 0.236
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Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. J Child Neurol. 2021 09; 36(10):841-852.
Score: 0.194
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Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2020 Apr; 22(4):821.
Score: 0.180
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Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.
Score: 0.174
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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.
Score: 0.171
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Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. Am J Med Genet A. 2019 05; 179(5):803-807.
Score: 0.167
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POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12.
Score: 0.103
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62.
Score: 0.052