| PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly R Shaheen, M Tasak, S Maddirevula, GMH Abdel-Salam, ISM Sayed, ... Human genetics 138, 231-239, 2019 | 60 | 2019 |
| A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS) GMH Abdel‐Salam, AE Schaffer, MS Zaki, T Dixon‐Salazar, IS Mostafa, ... American journal of medical genetics Part A 158 (11), 2788-2796, 2012 | 47 | 2012 |
| De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder HH Afifi, MS Abdel‐Hamid, MM Eid, IS Mostafa, GMH Abdel‐Salam Pediatric dermatology 33 (2), e109-e113, 2016 | 23 | 2016 |
| Microcephalic osteodysplastic primordial dwarfism type II: additional nine patients with implications on phenotype and genotype correlation GMH Abdel‐Salam, ISM Sayed, HH Afifi, SF Abdel‐Ghafar, MR Abouzaid, ... American Journal of Medical Genetics Part A 182 (6), 1407-1420, 2020 | 13 | 2020 |
| KBG syndrome in two patients from Egypt ISM Sayed, MS Abdel‐Hamid, GMH Abdel‐Salam American Journal of Medical Genetics Part A 182 (6), 1309-1312, 2020 | 11 | 2020 |
| Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A … HA Ahmed, GY El-Kamah, E Rabie, MI Mostafa, MR Abouzaid, NF Hassib, ... Genes 12 (9), 1389, 2021 | 9 | 2021 |
| Effect of low-level laser therapy on gene expression of vascular endothelial growth factor and interleukin-1 βin scalpel-induced and laser-induced oral wounds in rats ISM Sayed, FKAG Ali Saafan, TA Harhash, MA Abdel-Rahman Journal of Dental Lasers 9 (1), 23-30, 2015 | 8 | 2015 |
| OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype GMH Abdel-Salam, MS Abdel-Hamid, ISM Sayed, U Zechner, HJ Bolz Journal of Human Genetics 67 (1), 55-64, 2022 | 7 | 2022 |
| Phenotypic and molecular insights into PQBP1‐related intellectual disability GMH Abdel‐Salam, N Miyake, MS Abdel‐Hamid, ISM Sayed, ... American Journal of Medical Genetics Part A 176 (11), 2446-2450, 2018 | 5 | 2018 |
| Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait GMH Abdel‐Salam, R Duan, MS Abdel‐Hamid, ISM Sayed, SN Jhangiani, ... American Journal of Medical Genetics Part A 188 (2), 648-657, 2022 | 4 | 2022 |
| Expansion of the phenotypic and mutational spectrum of Carpenter syndrome R Khairat, R Elhossini, N Sobreira, E Wohler, G Otaify, AM Mohamed, ... European Journal of Medical Genetics 65 (1), 104377, 2022 | 4 | 2022 |
| Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child. S Ismail, A Fayez, GA Otaify, I Sayed, MO El Ruby, MS Aglan, ... Middle East J Med Genet 6 (2), 82-87, 2017 | 4 | 2017 |
| Bilateral calcification of basal ganglia in a patient with duplication of both 11q13. 1q22. 1 and 4q35. 2 with new phenotypic features MS Zaki, OM Eid, MM Eid, AM Mohamed, ISM Sayed, MS Abdel-Hamid, ... Cytogenetic and Genome Research 159 (3), 130-136, 2020 | 3 | 2020 |
| CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum GA Otaify, RM Elhossini, SF Abdel‐Ghafar, IM Sayed, GMH Abdel‐Salam, ... American Journal of Medical Genetics Part A 191 (8), 2100-2112, 2023 | 2 | 2023 |
| Genetic syndromes with premature loss of teeth: a retrospective study and a suggested classification MI Mehrez, N Hassib, I Sayed, E Aboul-Ezz, MI Ramzy, SM El-Hadidi, ... Middle East Journal of Medical Genetics 8 (2), 100, 2019 | 2 | 2019 |
| Clinical and cytogenetic analysis of terminal 22q13. 3 deletion in two patients with ring chromosome 22 S Ismail, AK Kamel, EA Ashaat, AM Mohamed, MS Zaki, EHA Aboul-Ezz, ... Middle East Journal of Medical Genetics 7 (2), 139, 2018 | 2 | 2018 |
| Further evidence of a continuum in the clinical spectrum of dominant PIEZO2-related disorders and implications in cerebellar anomalies GMH Abdel-Salam, HH Afifi, SN Saleem, MI Gadelhak, MA El-Serafy, ... Molecular Syndromology 13 (5), 389-396, 2022 | 1 | 2022 |
| A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia GMH Abdel-Salam, M Girgis, MM Eid, ISM Sayed, MS Abdel-Hamid Journal of Human Genetics 67 (11), 669-673, 2022 | 1 | 2022 |
| Philtrum length and intercommissural distance measurements at mixed dentition period M Mostafa, N Hassib, I Sayed, A Neamat, M Ramzy, T El‐Badry, ... American Journal of Medical Genetics Part A 176 (5), 1145-1149, 2018 | 1 | 2018 |
| A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on … RM Elhossini, IM Sayed, US Hellal, SAM Mahmoud, MS Aglan, NF Hassib, ... American Journal of Medical Genetics Part A 194 (1), 39-45, 2024 | | 2024 |
