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Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.
Bönnemann CG, Krishnamoorthy KS, Johnston JJ, Lee MM, Fowler DJ, Biesecker LG, Holmes LB. Bönnemann CG, et al. Among authors: fowler dj. Am J Med Genet A. 2023 Sep;191(9):2337-2343. doi: 10.1002/ajmg.a.63306. Epub 2023 Jul 12. Am J Med Genet A. 2023. PMID: 37435845 Free PMC article.
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Maharaj A, et al. Among authors: fowler dj. J Endocr Soc. 2018 Oct 30;3(1):201-221. doi: 10.1210/js.2018-00130. eCollection 2019 Jan 1. J Endocr Soc. 2018. PMID: 30620006 Free PMC article.
Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.
Munroe PB, Addison S, Abrams DJ, Sebire NJ, Cartwright J, Donaldson I, Cohen MM, Mein C, Tinker A, Harmer SC, Aziz Q, Terry A, Struebig M, Warren HR, Vadgama B, Fowler DJ, Peebles D, Taylor AM, Lally PJ, Thayyil S. Munroe PB, et al. Among authors: fowler dj. Circ Genom Precis Med. 2018 Jan;11(1):e001817. doi: 10.1161/CIRCGEN.117.001817. Epub 2018 Jan 11. Circ Genom Precis Med. 2018. PMID: 29874177 Free article.
The pathology of congenital lung lesions.
Fowler DJ, Gould SJ. Fowler DJ, et al. Semin Pediatr Surg. 2015 Aug;24(4):176-82. doi: 10.1053/j.sempedsurg.2015.02.002. Epub 2015 Feb 27. Semin Pediatr Surg. 2015. PMID: 26051050 Review.
37 results