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List of works by Mona L. Essawi

A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.

scientific article published on 16 July 2014

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.

scientific article published on 18 June 2013

Circulating miRNAs 21 and 221 as biomarkers for early diagnosis of prostate cancer.

scientific article published on 5 September 2014

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

scientific article

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

article

Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs) ⬇️

scientific article published on August 17, 2012

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

scientific article

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

scientific article published on August 2012

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

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