Mona El Gammal

National Research Centre — Egypt

Biochemistry, Genetics and Molecular Biology · Life Sciences

15h-index798citations37works0.02yr avg
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Research Topics

Sexual Differentiation and Disorders(8), Regulation of Appetite and Obesity(6), Adipose Tissue and Metabolism(5), Biochemical Analysis and Sensing Techniques(5), Urological Disorders and Treatments(5)

Publications37 total

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants
Molecular and Cellular Pediatrics·2025Open Access
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy
Molecular Neurobiology·2023· 2 citedOpen Access
Biochemical diagnosis of Sanfilippo disorder types A and B
Journal of Genetic Engineering and Biotechnology·2023· 4 citedOpen Access
Additional file 1 of Biochemical diagnosis of Sanfilippo disorder types A and B
Figshare·2023Open Access
Biochemical diagnosis of Sanfilippo disorder types A and B
Figshare·2023Open Access
Biochemical diagnosis of Sanfilippo disorder types A and B
Figshare·2023Open Access
Additional file 1 of Biochemical diagnosis of Sanfilippo disorder types A and B
Figshare·2023Open Access
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
Molecular Genetics and Genomics·2023· 9 cited
Whole Exome Sequencing for the Diagnosis of Rare Genetic Neurodevelopmental Disorders Associated with Cerebellar Atrophy
Research Square (Research Square)·2023Open Access
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development
American Journal of Medical Genetics Part A·2021· 28 cited
AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges
Annals of Translational Medicine·2017Open Access
Novel <b><i>AMH</i></b> and <b><i>AMHR2</i></b> Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome
Sexual Development·2017· 10 cited
Identification of <b><i>NR5A1</i></b> Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis
Sexual Development·2016· 48 cited
A Novel Mutation of the AMH in an Egyptian Male with Persistent Mullerian Duct Syndrome
2015
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene
The Journal of Clinical Endocrinology & Metabolism·2015· 99 citedOpen Access
Obesity in relation to inflammatory biomarkers, adiponectin gene variability, and insulin resistance among middle-aged Egyptian women
Middle East Journal of Medical Genetics·2015
Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype
Egyptian Journal of Medical Human Genetics·2015· 2 citedOpen Access
Indicators of the metabolic syndrome in obese adolescents
Archives of Medical Science·2015· 34 citedOpen Access
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development
European Journal of Endocrinology·2014· 38 cited
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Journal of Pediatric Endocrinology and Metabolism·2014· 10 cited
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Frequent Co-authors

Inas Mazen(18), Mohamed S. Abdel‐Hamid(10), Khalda Amr(7), Mona K. Mekkawy(7), Moushira Zaki(7), Hala T. El‐Bassyouni(7), Sanaa Kamal(6), Samia A. Temtamy(5), Mona Aglan(5), Soha S. Nosier(5), Mona L. Essawi(4), Sally Tantawy(4), Hala Soliman(4), Engy A. Ashaat(4), Seham M. S. El Nakeeb(4), Ekram M. Fateen(4), I. Sadaf Farooqi(3), Samira Ismail(3), Anu Bashamboo(3), Mona El‐Ruby(3)