Publications by authors named "Engy A Ashaat"

7Publications

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Am J Med Genet A 2020 Dec 19;182(12):2857-2866. Epub 2020 Sep 19.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61857DOI Listing
December 2020

The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.

Behav Brain Res 2020 01 3;378:112272. Epub 2019 Oct 3.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, P.O. 12622, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2019.112272DOI Listing
January 2020

Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.

Am J Med Genet B Neuropsychiatr Genet 2019 07 29;180(5):305-309. Epub 2019 Apr 29.

Clinical and Chemical Pathology Department, Faculty of Medicine, Benha University, Benha, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32729DOI Listing
July 2019

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38672
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018