Jean-Francois Soucy

Jean-Francois Soucy

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Jean-Francois Soucy

Jean-Francois Soucy

Publications by authors named "Jean-Francois Soucy"

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11Publications

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Allgrove Syndrome: A Report of New Pathological Variants in the AAAS Gene.

Cornea 2020 Feb 17. Epub 2020 Feb 17.

Department of Ophthalmology, Centre Hospitalier Universaite Sainte-Justine, Montreal, QC, Canada.

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http://dx.doi.org/10.1097/ICO.0000000000002287DOI Listing
February 2020

Mucolipidosis type IV in a child.

J AAPOS 2018 Dec 16;22(6):469-471. Epub 2018 Aug 16.

Department of Ophthalmology, Centre hospitalier universitaire Sainte-Justine, Montréal. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2018.04.011DOI Listing
December 2018

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient alleles.

Mol Genet Metab Rep 2018 Mar 27;14:55-58. Epub 2017 Dec 27.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758842PMC
March 2018

A case of familial transmission of the newly described DNMT3A-Overgrowth Syndrome.

Am J Med Genet A 2017 Jul 27;173(7):1887-1890. Epub 2017 Apr 27.

Département de pédiatrie, Service de génétique médicale, Centre Hospitalier Universitaire Ste-Justine, Université de Montréal, Montréal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38119DOI Listing
July 2017

Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.

Clin Biochem 2012 Jan 7;45(1-2):88-91. Epub 2011 Nov 7.

Department of Genetics, CHUS and Université de Sherbrooke, Sherbrooke, Québec, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S000991201102705
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http://dx.doi.org/10.1016/j.clinbiochem.2011.10.019DOI Listing
January 2012