Structural chromosomal abnormalities in couples with recurrent abortion in Egypt NEA Gaboon, AR Mohamed, SM Elsayed, OK Zaki, MA Elsayed Turkish journal of medical sciences 45 (1), 208-213, 2015 | 40 | 2015 |
Genetic etiology and clinical challenges of phenylketonuria NA Elhawary, IA AlJahdali, IS Abumansour, EN Elhawary, N Gaboon, ... Human genomics 16 (1), 22, 2022 | 31 | 2022 |
Nutritional genomics and personalized diet NEA Gaboon Egyptian Journal of Medical Human Genetics 12 (1), 2011 | 30 | 2011 |
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations A Parveen, SA Khan, MU Mirza, H Bashir, F Arshad, M Iqbal, W Ahmad, ... International Journal of Molecular Sciences 20 (21), 5282, 2019 | 22 | 2019 |
Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis NEA Gaboon, M Jelani, MM Almramhi, HSA Mohamoud, JY Al‐Aama The Journal of dermatology 42 (7), 706-709, 2015 | 19 | 2015 |
Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects NEA Gaboon, B Banaganapalli, K Nasser, M Razeeth, MS Alsaedi, ... Saudi Journal of Biological Sciences 27 (1), 324-334, 2020 | 17 | 2020 |
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients NEA Gaboon, A Parveen, KA Ahmad, T Shuaib, JY Al-Aama, ... Frontiers in Pediatrics 8, 383, 2020 | 9 | 2020 |
Attitude toward prenatal testing and termination of pregnancy among health professionals and medical students in Saudi Arabia NEA Gaboon, KH Bakur, AY Edrees, JY Al-Aama Journal of pediatric genetics 6 (03), 149-154, 2017 | 9 | 2017 |
Recurrent Spontaneous Abortion: An Overview of Genetic Backgrounds and Impact of Male Factors: A Review NEA Gaboon Int J Hum Genet 13 (2), 79-83, 2013 | 7 | 2013 |
A novel mutation in exon 1 of GATA4 in Egyptian patients with congenital heart disease O Shaker, S Omran, E Sharaf, GA Hegazy, M Mashaly, NEA Gaboon Turkish Journal of Medical Sciences 47 (1), 217-221, 2017 | 6 | 2017 |
Hereditary periodic fever syndromes RM Shawky, NEA Gaboon Egyptian Journal of Medical Human Genetics 12 (2), 117-125, 2011 | 6 | 2011 |
A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family NEA Gaboon, A Parveen, A El Beheiry, JY Al-Aama, MS Alsaedi, N Wasif Frontiers in Pediatrics 7, 245, 2019 | 3 | 2019 |
Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine RM Shawky, S Elsayed, N Gaboon Egyptian Journal of Medical Human Genetics 13 (1), 107-113, 2012 | 3 | 2012 |
Erratum: Attitude toward prenatal testing and termination of pregnancy among health professionals and medical students in Saudi Arabia NEA Gaboon, KH Bakur, AY Edrees, JY Al-Aama Journal of Pediatric Genetics 6 (03), e1-e1, 2017 | 1 | 2017 |
Oro-Facio-Digital Syndrome Type IX with Polydactyly and Multiple Intraocular Findings NEAGJY Al-Aama International journal of human genetics 15 (2), 89-92, 2015 | 1 | 2015 |