Melanie Bedford

Melanie Bedford

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Melanie Bedford

Melanie Bedford

Publications by authors named "Melanie Bedford"

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Incidental detection of familial APP duplication: an unusual reason for a false positive NIPT result of trisomy 21.

Prenat Diagn 2016 Apr 24;36(4):382-4. Epub 2016 Feb 24.

Genetics Program, North York General Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.4783DOI Listing
April 2016

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Prenatal diagnosis of Jeune-like syndromes with two-dimensional and three-dimensional sonography.

J Clin Ultrasound 2012 May 22;40(4):222-6. Epub 2011 Nov 22.

Women's Imaging Health Center, Medical Director, 790 Bay Street, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/jcu.20902DOI Listing
May 2012

A six-month-old infant with liver steatosis.

J Pediatr 2004 Feb;144(2):258-63

Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2003.11.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954655PMC
February 2004