Publications by authors named "Sophia Ceulemans"

4Publications

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Paroxysmal motor disorders: expanding phenotypes lead to coalescing genotypes.

Ann Clin Transl Neurol 2018 Aug 17;5(8):996-1010. Epub 2018 Jul 17.

Division of Neurology Rady Children's Hospital San Diego California.

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http://dx.doi.org/10.1002/acn3.597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093839PMC
August 2018