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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.
Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium; Saunders C, Boycott KM, Thiffault I. Kernohan KD, et al. Among authors: spangler b. Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28185376
Preoperative frailty status measured by Clinical Risk Analysis Index and adverse events after endoscopic endonasal transsphenoidal resection of pituitary adenoma: results of a single center prospective case series.
Marquez J, Spangler BQ, Rumalla K, Kazim SF, Courville E, Patel SA, Lundquist DK, Muka TN, Varela S, Olson GT, Shama L, McKee RG, Schmidt MH, Bowers CA. Marquez J, et al. Among authors: spangler bq. J Neurosurg Sci. 2023 Aug;67(4):539-541. doi: 10.23736/S0390-5616.22.05947-1. Epub 2023 Jan 24. J Neurosurg Sci. 2023. PMID: 36692309 No abstract available.
41 results