| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 56 | 2020 |
| Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature MM Nabhan, N ElKhateeb, DA Braun, S Eun, SN Saleem, H YungGee, ... American Journal of Medical Genetics Part A 173 (10), 2697-2702, 2017 | 17 | 2017 |
| 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), 2019 | 7 | 2019 |
| Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study N Elkhateeb, G Olivieri, B Siri, S Boyd, KM Stepien, R Sharma, ... Epilepsia 64 (6), 1612-1626, 2023 | 4 | 2023 |
| Initial levetiracetam versus valproate monotherapy in antiseizure medicine (ASM)-naïve pediatric patients with idiopathic generalized epilepsy with tonic-clonic seizures SK Abdelmesih, N Elkhateeb, M Zakaria, MY Girgis Seizure 91, 263-270, 2021 | 4 | 2021 |
| Clinical and neurophysiological characterization of early neuromuscular involvement in children and adolescents with nephropathic cystinosis N Elkhateeb, R Selim, NA Soliman, FM Atia, II Abouelwoun, MA Elmonem, ... Pediatric Nephrology 37 (7), 1555-1566, 2022 | 2 | 2022 |
| Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS MS Zaki, WE Sharaf‐Eldin, K Rafat, HM Elbendary, M Kamel, N Elkhateeb, ... Clinical Genetics 104 (2), 238-244, 2023 | 1 | 2023 |
| Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication N Elkhateeb, A Chakrapani, J Davison, S Grunewald, S Batzios JIMD reports 57 (1), 15-22, 2021 | 1 | 2021 |
| GestaltMatcher Database-A global reference for facial phenotypic variability in rare human diseases TC Hsieh, H Lesmann, A Hustinx, S Moosa, E Marchi, MPC Martin, ... | | 2024 |
| The expanding clinical and genetic spectrum of DYNC1H1-related disorders B Möller, LL Becker, A Saffari, A Afenjar, EG Coci, R Williamson, ... Brain, awae183, 2024 | | 2024 |
| Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity R Maroofian, P Sarraf, TJ O’Brien, M Kamel, A Cakar, N Elkhateeb, T Lau, ... Brain, awae091, 2024 | | 2024 |
| The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children N Elkhateeb, MY Issa, HM Elbendary, W Elnaggar, A Ramadan, K Rafat, ... Clinical Genetics, 2024 | | 2024 |
| Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis TE Ratnaike, N Elkhateeb, A Lochmüller, C Gilmartin, K Schon, R Horváth, ... BMJ Neurology Open 6 (1), 2024 | | 2024 |
| Phenotype and genotype spectrum expansion of West Syndrome of genetic aetiology in Egyptian children N Elkhateeb, M Issa, H Elbendary, W Elnaggar, M Kamel, K Rafat, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 485-485, 2024 | | 2024 |
| Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. J Del-Pozo-Rodrigez, P Tilly, R Lecat, HR Vaca, L Mosser, T Balla, ... medRxiv, 2024.03. 01.24303485, 2024 | | 2024 |
| A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder D Arbide, N Elkhateeb, E Goljan, CP Gonzalez, A Maw, SM Park Case Reports in Genetics 2024 (1), 5906936, 2024 | | 2024 |
| The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria S Gurung, S Karamched, D Perocheau, KK Seunarine, T Baldwin, ... Journal of Inherited Metabolic Disease, 2023 | | 2023 |
| Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation MAE Salam, K Salama, YMM Selim, M Saad, R Rady, S Alawbathani, ... Annals of Human Genetics 87 (4), 166-173, 2023 | | 2023 |
| A case of hypogonadotropic hypogonadism (HH) due to CHARGE syndrome M Shazra, N Elkhateeb, SM Park, C Parkinson Endocrine Abstracts 91, 2023 | | 2023 |
| Paracetamol toxicity in classic homocystinuria: Effect of N‐acetylcysteine on total homocysteine N Elkhateeb, S Hyde, SL Hogg, D Allsop, A Shankar, P Deegan, CY Tan JIMD reports 64 (3), 238-245, 2023 | | 2023 |
mohamed Abd ElmonemProfessor of clinical and chemical pathology, faculty of medicine, Cairo universityVerified email at kasralainy.edu.eg
