| MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13. 2 genes with disease phenotype in Egyptian patients HA Hassan, NA Fahmy, NM El-Bagoury, NR Eissa, WE Sharaf-Eldin, ... Egyptian Journal of Medical Human Genetics 23 (1), 156, 2022 | 3 | 2022 |
| Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease EM Fateen, H Abd El Mawgoud, NR Eissa, MM Ibrahim, MS Aglan, ... Gene 600, 48-54, 2017 | 3 | 2017 |
| Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene ML Essawi, EM Fateen, HA Atia, NR Eissa, EH Aboul-Ezz, MM Ibrahim, ... Journal of Genetic Engineering and Biotechnology 19 (1), 111, 2021 | 2 | 2021 |
| SMA carrier testing using Real-time PCR as a potential preconception screening tool NR Eissa, HA Hassan, SM Senousy, HN Soliman, ML Essawi Egyptian Journal of Medical Human Genetics 23 (1), 24, 2022 | 1 | 2022 |
| Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II HA Hassan, I Mazen, A Elaidy, AK Kamel, NR Eissa, ML Essawi Hormones, 1-8, 2024 | | 2024 |
| An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies S Sabry, MY Issa, MS Abdel-Hamid, NR Eissa, SF Abdel-Ghafar, ... Molecular Biology Reports 50 (8), 6373-6379, 2023 | | 2023 |
| Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation S Sabry, NR Eissa, MS Zaki BMC Research Notes 16 (1), 53, 2023 | | 2023 |
| Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants NR Eissa, ML Essawi, GMH Abdel-Salam, HA Hassan, EM Fateen, ... Middle East Journal of Medical Genetics 11 (1), 1-11, 2022 | | 2022 |
