Ilaria Kolobova

Ilaria Kolobova

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Ilaria Kolobova

Ilaria Kolobova

Publications by authors named "Ilaria Kolobova"

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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 05 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

A Rapid Pipeline to Model Rare Neurodevelopmental Disorders with Simultaneous CRISPR/Cas9 Gene Editing.

Stem Cells Transl Med 2017 03 1;6(3):886-896. Epub 2016 Dec 1.

McGill Group for Suicide Studies, Douglas Hospital Research Institute, Montreal, Quebec, H4H 1R3, Canada.

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http://doi.wiley.com/10.1002/sctm.16-0158
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http://dx.doi.org/10.1002/sctm.16-0158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5442775PMC
March 2017

Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Mol Syndromol 2016 Nov 24;7(6):302-311. Epub 2016 Sep 24.

Department of Psychiatry, Douglas Hospital Research Institute, McGill University, Montreal, Que., Canada.

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http://dx.doi.org/10.1159/000449296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131334PMC
November 2016