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MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. El-Hattab AW, et al. Among authors: hertecant j. Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13. Hum Mutat. 2018. PMID: 29282788 Free article.
Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, Dhawan A, Hertecant J, Al Jasmi F, Rahman O, Deheragoda M, Bull LN, Thompson RJ; University of Washington Center for Mendelian Genomics. Grammatikopoulos T, et al. Among authors: hertecant j. Hepatol Commun. 2022 Mar;6(3):473-479. doi: 10.1002/hep4.1824. Epub 2021 Oct 22. Hepatol Commun. 2022. PMID: 34677006 Free PMC article.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR. Lee M, et al. Among authors: hertecant j. Hum Mol Genet. 2016 May 15;25(10):1923-1933. doi: 10.1093/hmg/ddw065. Epub 2016 Feb 23. Hum Mol Genet. 2016. PMID: 26911677 Free PMC article.
84 results