Nihal Almenabawy

Nihal Almenabawy

Cairo University - Giza / Egypt
Medical and Health Sciences / Neurology
AD Scientific Index ID: 5783074
جامعة القاهرة
person_outline Nihal Almenabawy's MOST POPULAR ARTICLES
1-) Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorderCM Dias, J Punetha, C Zheng, N Mazaheri, A Rad, S Efthymiou, ...The American Journal of Human Genetics 105 (5), 1048-1056, 2019442019
2-) Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphologyS Elouej, K Harhouri, M Le Mao, G Baujat, S Nampoothiri, H Kayserili, ...Nature communications 11 (1), 4589, 2020432020
3-) Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndromeC Cozma, M Hovakimyan, MI Iurașcu, N Makhseed, LA Selim, ...Orphanet Journal of Rare Diseases 14, 1-10, 2019142019
4-) Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: a report of 6 cases with 4 novel variantsN AlMenabawy, HM Hassaan, M Ramadan, IEA Meguid, HA El Gindy, ...Mitochondrion 65, 139-144, 2022102022
5-) Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.IG Mahmoud, NM Elkhateeb, W Elnaggar, A Sobhi, MY Girgis, M Kamel, ...Clinical Genetics 95 (4), 201972019