| The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population N Jalkh, S Corbani, Z Haidar, N Hamdan, E Farah, J Abou Ghoch, ... BMC medical genomics 12, 1-7, 2019 | 51 | 2019 |
| T-cell transcriptome analysis points up a thymic disorder in idiopathic nephrotic syndrome H Mansour, L Cheval, JM Elalouf, JC Aude, MA Alyanakian, B Mougenot, ... Kidney international 67 (6), 2168-2177, 2005 | 43 | 2005 |
| Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases P Nair, S Sabbagh, H Mansour, A Fawaz, G Hmaimess, P Noun, ... Molecular Genetics & Genomic Medicine 6 (6), 1041-1052, 2018 | 32 | 2018 |
| A 20-year clinical and genetic neuromuscular cohort analysis in Lebanon: an international effort A Megarbane, S Bizzari, A Deepthi, S Sabbagh, H Mansour, E Chouery, ... Journal of Neuromuscular Diseases 9 (1), 193-210, 2022 | 29 | 2022 |
| Case report: the genetic diagnosis of Duchenne muscular dystrophy in the Middle East F Alghamdi, A Al-Tawari, H Alrohaif, W Alshuaibi, H Mansour, ... Frontiers in pediatrics 9, 716424, 2021 | 10 | 2021 |
| The Lebanese allele in the PET100 gene: report on two new families with cytochrome c oxidase deficiency H Mansour, S Sabbagh, S Bizzari, S El-Hayek, E Chouery, A Gambarini, ... Journal of Pediatric Genetics 8 (03), 172-178, 2019 | 10 | 2019 |
| Further delineation of the TRAPPC6B disorder: Report on a new family and review P Nair, L El-Bazzal, H Mansour, S Sabbagh, MT Al-Ali, A Gambarini, ... Journal of Pediatric Genetics 8 (04), 252-256, 2019 | 6 | 2019 |
| Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis MZ Habbal, TB Assi, H Mansour Case Reports 2013, bcr2012008491, 2013 | 6 | 2013 |
| Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants M Daou, M Souaid, T Yammine, I Khneisser, H Mansour, N Salem, ... Molecular genetics & genomic medicine 11 (2), e2058, 2023 | 5 | 2023 |
| Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy R Aprahamian, T Yammine, N Salem, M Souaid, H Mansour, C Farra Ophthalmic Genetics 42 (6), 744-746, 2021 | 5 | 2021 |
| Les maladies rares au Liban: difficultés diagnostiques et thérapeutiques H Mansour Archives de pediatrie 5 (22), 1-2, 2015 | 4 | 2015 |
| Andre Me garbane, Jean Pierre Desvignes, Vale rie Delague14, Cybel Mehawej and Eliane Chouery N Jalkh, S Corbani, Z Haidar, N Hamdan, E Farah, J Abou Ghoch, ... The added value of WES reanalysis in the field of genetic diagnosis: lessons …, 0 | 3 | |
| Rare diseases in Lebanon: diagnostic difficulties and therapy H Mansour Archives de Pediatrie: Organe Officiel de la Societe Francaise de Pediatrie …, 2015 | 2 | 2015 |
| Plexiform penile neurofibroma: A case report of a rare entity in a pre-pubertal child B Issa, E Mansour, G Jabbour, C Chikhani, H Mansour, M Jabbour Urology 156, e124-e126, 2021 | 1 | 2021 |
| Celiac Disease Overlooked in a Patient With Becker Muscle Dystrophy H Mansour, M Barmada, GF DiabN, M Sokhn J Emerg Rare Dis 2, 107, 2018 | 1 | 2018 |
| From Confusion to Autism: When to Think of an Inborn Error of Metabolism H Mansour Journal of Birth defects 1, 3, 2018 | 1 | 2018 |
| A Case of Reverse Shapiro Syndrome Responding to Cyprohepatadine H Mansour, M Sabouneh, G Hmaimess SM J Pediatr 2 (2), 1010, 2017 | 1 | 2017 |
| Maladie de Fabry chez l'enfant B CHABROL, H MANSOUR, A CANO La Presse médicale (1983) 36, 2007 | 1 | 2007 |
| First Report of A Lebanese Patient With TK2 Related Myopathic Syndrome MH Al-Fata Soulaima, Masri Marwa, Hage Pierre, Hamod Dany, Diab Nabil ... SVOA Paediatrics 2 (2), 31-35, 2023 | | 2023 |
| Adenovirus-induced Acute Necrotizing Encephalopathy in a Previously Healthy Infant-A case report C Chikhani, H Ghassan, H Mansour, S Ghanem, D Hamod, Y Nassif, ... International Journal of Integrative Pediatrics and Environmental Medicine 8 …, 2023 | | 2023 |
