Publications by authors named "Mona O El Ruby"

9Publications

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.

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

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.

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

Phenotypic characterization of rare interstitial deletion of chromosome 4.

J Pediatr Genet 2012 Sep;1(3):189-94

Department of Clinical Genetics, Human Genetics & Genome Research, National Research Center, Cairo, Egypt.

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http://dx.doi.org/10.3233/PGE-2012-029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020940PMC
September 2012

Assessment of pubertal development in Egyptian girls.

J Pediatr Endocrinol Metab 2005 Jun;18(6):577-84

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1515/jpem.2005.18.6.577DOI Listing
June 2005