| HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence. C Hübner, R Meyer, A Kenawy, L Ambrozaityte, A Matuleviciene, F Kraft, ... The Journal of Clinical Endocrinology & Metabolism 105 (7), 2401–2407, 2020 | 17 | 2020 |
| One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome R Meyer, M Begemann, CT Hübner, D Dey, A Kuechler, M Elgizouli, ... Orphanet journal of rare diseases 16, 1-10, 2021 | 16 | 2021 |
| Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes E Thompson, E Abdalla, A Superti-Furga, W McAlister, L Kratz, S Unger, ... Bone 120, 354-363, 2019 | 13 | 2019 |
| CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma MR Fassad, AK Amin, HA Morsy, NM Issa, NH Bayoumi, SA El Shafei, ... Egyptian Journal of Medical Human Genetics 18 (3), 219-224, 2017 | 8 | 2017 |
| Fraser syndrome: Phenotypic variability and unusual findings in four Egyptian families EM Abdalla, LH Zayed, NM Issa, AK Amin Egyptian Journal of Medical Human Genetics 17 (2), 233-238, 2016 | 5 | 2016 |
| A genetic association study of a specific gene and severe form of resorption in the edentulous mandible in the Egyptian population SM Emam, AK Amin, NM Issa, MS El‐Attar Journal of Prosthodontics 28 (4), 409-415, 2019 | 4 | 2019 |
| Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis U Altunoglu, A Palencia-Campos, N Güneş, GT Turgut, J Nevado, ... Journal of Medical Genetics, 2024 | | 2024 |
| 11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? AK Amin, J Krause, T Eggermann Molecular Cytogenetics 17 (1), 5, 2024 | | 2024 |
| A Case Of Pseudohypoparathyoidism with an Unusual Presentation M Adawy, Y Hussein, K Chafee, AK Amin HORMONE RESEARCH IN PAEDIATRICS 95 (SUPPL 2), 456-456, 2022 | | 2022 |
| Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family CT Hübner, AK Amin, D Dey, R Meyer, T Eggermann Molecular Syndromology, 1-7, 2022 | | 2022 |
