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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: smith jr. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Graves' disease in a five-month-old boy with an unusual treatment course.
Azova S, Rajabi F, Modi BP, Mansfield L, Jonas MM, Drobysheva A, Boyd TK, Wassner AJ, Smith JR. Azova S, et al. Among authors: smith jr. J Pediatr Endocrinol Metab. 2020 Dec 15;34(3):401-406. doi: 10.1515/jpem-2020-0549. Print 2021 Mar 26. J Pediatr Endocrinol Metab. 2020. PMID: 33675208 Free PMC article.
Natural History and Outcomes of Cytologically Benign Thyroid Nodules in Children.
Cherella CE, Feldman HA, Hollowell M, Richman DM, Cibas ES, Smith JR, Angell TE, Wang Z, Alexander EK, Wassner AJ. Cherella CE, et al. Among authors: smith jr. J Clin Endocrinol Metab. 2018 Sep 1;103(9):3557-3565. doi: 10.1210/jc.2018-00895. J Clin Endocrinol Metab. 2018. PMID: 29982665 Free PMC article.
5,128 results