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Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4.
Am J Med Genet A. 2019.
PMID: 30719864
Free PMC article.
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM.
Duffy KA, et al. Among authors: gonzalez gandolfi cx.
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708. doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30.
Am J Med Genet C Semin Med Genet. 2019.
PMID: 31469230
Free PMC article.
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Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
Cohen JL, Duffy KA, Sajorda BJ, Hathaway ER, Gonzalez-Gandolfi CX, Richards-Yutz J, Gunter AT, Ganguly A, Kaplan J, Deardorff MA, Kalish JM.
Cohen JL, et al. Among authors: gonzalez gandolfi cx.
Am J Med Genet A. 2019 Jul;179(7):1139-1147. doi: 10.1002/ajmg.a.61164. Epub 2019 May 8.
Am J Med Genet A. 2019.
PMID: 31067005
Free PMC article.
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