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A novel STXBP1 mutation causes focal seizures with neonatal onset.
J Child Neurol. 2012 Jun;27(6):811-4. doi: 10.1177/0883073811435246.
J Child Neurol. 2012.
PMID: 22596016
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM.
Couser NL, et al. Among authors: turcott cm.
Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9.
Am J Med Genet A. 2017.
PMID: 28181399
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A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.
Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.
Montgomery ND, et al. Among authors: turcott cm.
Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.
Am J Med Genet A. 2013.
PMID: 23239541
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Rapid Transition to Telemedicine During the COVID-19 Pandemic: Medical Genetics Experience.
Zoran S, Turcott C, Whitehead A, Hrabik L, Harris A, Scott Schwoerer J.
Zoran S, et al.
WMJ. 2021 Oct;120(3):218-221.
WMJ. 2021.
PMID: 34710304
Free article.
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