Publications by authors named "Shannon Marchegiani"

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Hypotonia and Failure to Thrive in a 6-week-old Infant.
Elizabeth Carter, Laura Malchodi, Shannon Marchegiani

Pediatr Rev· October 2019

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Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Shannon Marchegiani

Mol Syndromol· June 2017

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
Shannon Marchegiani, Taylor Davis, Federico Tessadori, Gijs van Haaften, Francesco Brancati

Am J Hum Genet· July 2015

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Evidence for autosomal dominant inheritance of ablepharon-macrostomia syndrome.
Luis Rohena, Devon Kuehn, Shannon Marchegiani, Jason D Higginson

Am J Med Genet A· April 2011

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Molecular analysis of nondisjunction in mice heterozygous for a Robertsonian translocation.
Lara A Underkoffler, Laura E Mitchell, A Russell Localio, Shannon M Marchegiani, Justin Morabito

Genetics· July 2002

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