Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
Temtamy, Samia A., Aglan, Mona S., Valencia, Maria, Cocchi, Guido, Pacheco, Maria, Ashour, Adel M., Amr, Khalda S., Helmy, Sanaa M.H., El-Gammal, Mona A., Wright, Michael, Lapunzina, Pablo, Goodship, Judith A., Ruiz-Perez, Victor L.
Published in Human mutation (01.07.2008)
Published in Human mutation (01.07.2008)
Get full text
Journal Article
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
Mazen, Inas H., El-Gammal, Mona A., Elaidy, Aya A., Anwar, Ghada M., Ashaat, Engy A., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S.
Published in Molecular genetics and genomics : MGG (01.07.2023)
Published in Molecular genetics and genomics : MGG (01.07.2023)
Get full text
Journal Article
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development
Mazen, Inas, Mekkawy, Mona, Kamel, Alaa, Essawi, Mona, Hassan, Heba, Abdel‐Hamid, Mohamed, Amr, Khalda, Soliman, Hala, El‐Ruby, Mona, Torky, Ahmed, El Gammal, Mona, Elaidy, Aya, Bashamboo, Anu, McElreavey, Kenneth
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
Get full text
Journal Article
Clinical and Radiographic Evaluation of Immediate Loaded Dental Implants With Local Application of Melatonin: A Preliminary Randomized Controlled Clinical Trial
El-Gammal, Mona Y, Salem, Ahmed S, Anees, Mohamed M, Tawfik, Mohamed A
Published in The Journal of oral implantology (01.04.2016)
Published in The Journal of oral implantology (01.04.2016)
Get full text
Journal Article
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis
Mazen, Inas, Abdel-Hamid, Mohamed, Mekkawy, Mona, Bignon-Topalovic, Joëlle, Boudjenah, Radia, El Gammal, Mona, Essawi, Mona, Bashamboo, Anu, McElreavey, Ken
Published in Sexual development (01.01.2016)
Published in Sexual development (01.01.2016)
Get full text
Journal Article
Association of serum paraoxonase enzyme activity and oxidative stress markers with dyslipidemia in obese adolescents
Zaki, Moushira Erfan, El-Bassyouni, Hala, Kamal, Sanaa, El-Gammal, Mona, Youness, Eman
Published in Indian journal of endocrinology and metabolism (01.05.2014)
Published in Indian journal of endocrinology and metabolism (01.05.2014)
Get full text
Journal Article
A novel mutation in the leptin gene (W121X) in an Egyptian family
Mazen, Inas, Amr, Khalda, Tantawy, Sally, Farooqi, I Sadaf, El Gammal, Mona
Published in Molecular genetics and metabolism reports (01.01.2014)
Published in Molecular genetics and metabolism reports (01.01.2014)
Get full text
Journal Article
Metabolic abnormalities in young Egyptian women with polycystic ovary syndrome and their relation to ADIPOQ gene variants and body fat phenotype
Zaki, Moushira, Kholoussi, Shams, Ismail, Somaia, Raouf, Haiam Abdel, Helwa, Iman, Hassan, Naglaa, Youness, Eman, Mohamed, Nadia A., Kamal, Sanaa, Yousef, Walaa, Shaker, Mohamed, Ezzat, Wafaa, Elhosary, Yasser A., Saleh, Omnia M., El Gammal, Mona, El-Bassyouni, HalaT, Ismail, Samira, Bibars, Mamdouh, Azmy, Osama
Published in The Egyptian journal of medical human genetics (01.10.2015)
Published in The Egyptian journal of medical human genetics (01.10.2015)
Get full text
Journal Article
Assessment of Pubertal Development in Egyptian Girls
Hosny, L A., El-Ruby, M.O., Zaki, M.E., Aglan, M.S., Zaki, M.S., El Gammal, M.A., Mazen, I.M.
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2005)
Published in Journal of Pediatric Endocrinology and Metabolism (01.06.2005)
Get full text
Journal Article
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene
Wabitsch, Martin, Funcke, Jan-Bernd, von Schnurbein, Julia, Denzer, Friederike, Lahr, Georgia, Mazen, Inas, El-Gammal, Mona, Denzer, Christian, Moss, Anja, Debatin, Klaus-Michael, Gierschik, Peter, Mistry, Vanisha, Keogh, Julia M, Farooqi, I. Sadaf, Moepps, Barbara, Fischer-Posovszky, Pamela
Published in The journal of clinical endocrinology and metabolism (01.09.2015)
Published in The journal of clinical endocrinology and metabolism (01.09.2015)
Get full text
Journal Article
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy
Ashaat, Engy A., Ahmed, Hoda A., Elaraby, Nesma M., Fayez, Alaaeldin, Metwally, Ammal M., Mekkawy, Mona K., Hussen, Dalia Farouk, Ashaat, Neveen A., Elhossini, Rasha M., ElAwady, Heba Ahmed, Abdelgawad, Randa H. A., Gammal, Mona El, Al Kersh, Mohamed Ahmed, Saleh, Dina Amin
Published in Molecular neurobiology (01.08.2024)
Published in Molecular neurobiology (01.08.2024)
Get full text
Journal Article
AB002. Human genetics at the National Research Centre in Egypt: history, achievements and challenges
El Gammal, Mona, Aglan, Mona, Temtamy, Samia
Published in Annals of translational medicine (01.09.2017)
Published in Annals of translational medicine (01.09.2017)
Get full text
Journal Article
Indicators of the metabolic syndrome in obese adolescents
Zaki, Moushira Erfan, El-Bassyouni, Hala T, El-Gammal, Mona, Kamal, Sanaa
Published in Archives of medical science (16.03.2015)
Published in Archives of medical science (16.03.2015)
Get full text
Journal Article
Biochemical diagnosis of Sanfilippo disorder types A and B
Nosier, Soha S., El Nakeeb, Seham M. S., Ibrahim, Mona M., El-Gammal, Mona, Fateen, Ekram M.
Published in Journal of Genetic Engineering and Biotechnology (01.12.2023)
Published in Journal of Genetic Engineering and Biotechnology (01.12.2023)
Get full text
Journal Article
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome
Mazen, Inas, El-Gammal, Mona, McElreavey, Ken, Elaidy, Aya, Abdel-Hamid, Mohamed S.
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
Get full text
Journal Article
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
Tantawy, Sally, Mazen, Inas, Soliman, Hala, Anwar, Ghada, Atef, Abeer, El-Gammal, Mona, El-Kotoury, Ahmed, Mekkawy, Mona, Torky, Ahmad, Rudolf, Agnes, Schrumpf, Pamela, Grüters, Annette, Krude, Heiko, Dumargne, Marie-Charlotte, Astudillo, Rebekka, Bashamboo, Anu, Biebermann, Heike, Köhler, Birgit
Published in European journal of endocrinology (01.05.2014)
Published in European journal of endocrinology (01.05.2014)
Get full text
Journal Article
Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Mazen, Inas, Ismail, Samira, Amr, Khalda, El Gammal, Mona, Abdel-Hamid, Mohamed
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2014)
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2014)
Get full text
Journal Article
Clinical research: Indicators of the metabolic syndrome in obese adolescents
Zaki, Moushira Erfan, El-Bassyouni, Hala T, El-Gammal, Mona, Kamal, Sanaa
Published in Archives of medical science (01.01.2015)
Published in Archives of medical science (01.01.2015)
Get full text
Journal Article
A Novel Mutation (c.2735_2736delTC) in the Androgen Receptor Gene in 46,XY Females with Complete Androgen Insensitivity Syndrome in an Egyptian Family
Mazen, Inas, Soliman, Hala, El-Gammal, Mona, Torky, Ahmed, Mekkawy, Mona, Abdel-Hamid, Mohamed S., Essawi, Mona
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
Get full text
Journal Article
Early-loaded laser-sintered versus acid-etched one-piece dental implants for mandibular premolars replacement: a preliminary study
El-Gammal, Mona, Ghoneem, Nahed, Tawfik, Heba, Madina, Manal Abou, Fadhil, Omar N, Maria, Ola M
Published in Implant dentistry (01.10.2014)
Published in Implant dentistry (01.10.2014)
Get more information
Journal Article