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List of works by Mona El Ruby

A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

scientific article published on 23 April 2015

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

scientific article

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

scientific article

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

scientific article published in May 2018

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

article

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

scientific article published on 01 January 2011

Phenotypic characterization of rare interstitial deletion of chromosome 4

scientific article published on September 2012

Screening of genital anomalies in newborns and infants in two egyptian governorates.

scientific article

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

article

Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development.

scientific article published on 09 May 2013

Variable Associations of Klinefelter Syndrome in Children ⬇️

scientific article published on October 1, 2010

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

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