Stephanie M Luco

Stephanie M Luco

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Stephanie M Luco

Stephanie M Luco

Publications by authors named "Stephanie M Luco"

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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

CMAJ 2016 Aug 30;188(11):E254-E260. Epub 2016 May 30.

Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

BMC Med Genet 2016 Feb 27;17:15. Epub 2016 Feb 27.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, K1H 8L1, Canada.

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http://dx.doi.org/10.1186/s12881-016-0276-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769499PMC
February 2016

Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.

Neurol Genet 2016 Feb 22;2(1):e38. Epub 2015 Dec 22.

Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817904PMC
February 2016

The evaluation of pre and post processing semen analysis parameters at the time of intrauterine insemination in couples diagnosed with male factor infertility and pregnancy rates based on stimulation agent. A retrospective cohort study.

Eur J Obstet Gynecol Reprod Biol 2014 Aug 20;179:159-62. Epub 2014 May 20.

McGill University, Department of Obstetrics and Gynecology, 687 Pine Ave West, Montreal, QC H3A 1A1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2014.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144991PMC
August 2014