Publications by authors named "Beth Torchia"


Homozygous deletion of Tenascin-R in a patient with intellectual disability.

J Med Genet 2012 Jul 22;49(7):451-4. Epub 2012 Jun 22.

Division of Pediatric Neurology, Departments of Neurology/Neurosurgery, McGill University, Montreal Children’s Hospital-McGill University Health Center, Quebec, Canada.

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July 2012

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Am J Med Genet A 2011 Dec 7;155A(12):3110-5. Epub 2011 Nov 7.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

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December 2011