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Did you mean rabe, f[au] (101 results)?
The genomic landscape of rare disorders in the Middle East.
El Naofal M, Ramaswamy S, Alsarhan A, Nugud A, Sarfraz F, Janbaz H, Taylor A, Jain R, Halabi N, Yaslam S, Alfalasi R, Shenbagam S, Rabea F, Bitzan M, Yavuz L, Wafadari D, Abulhoul H, Shankar S, Al Maazmi M, Rizk R, Alloub Z, Elbashir H, Babiker MOE, Chencheri N, AlBanna A, Sultan M, El Bitar M, Kherani S, Thalange N, Alshryda S, Di Donato R, Tzivinikos C, Majid I, Freeman AF, Gonzalez C, Khan AO, Hamdan H, Abuhammour W, AlAwadhi M, AlKhayat A, Alsheikh-Ali A, Abou Tayoun AN. El Naofal M, et al. Among authors: rabea f. Genome Med. 2023 Jan 27;15(1):5. doi: 10.1186/s13073-023-01157-8. Genome Med. 2023. PMID: 36703223 Free PMC article.
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.
Sinha S, Rabea F, Ramaswamy S, Chekroun I, El Naofal M, Jain R, Alfalasi R, Halabi N, Yaslam S, Sheikh Hassani M, Shenbagam S, Taylor A, Uddin M, Almarri MA, Du Plessis S, Alsheikh-Ali A, Abou Tayoun A. Sinha S, et al. Among authors: rabea f. Nat Commun. 2025 Mar 14;16(1):2500. doi: 10.1038/s41467-025-57695-9. Nat Commun. 2025. PMID: 40087273 Free PMC article.
Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.
Rabea F, El Naofal M, Chekroun I, Khalaf M, Zaabi NA, AlZaabi K, ElHalik M, Dash S, El Saba Y, Ali A, Abraham S, Fathi K, Shekhy J, Aswad SG, Elbashir H, Alkuraya F, Loney T, Alsheikh-Ali A, Khayat AA, Abou Tayoun A. Rabea F, et al. Commun Med (Lond). 2024 Jun 15;4(1):119. doi: 10.1038/s43856-024-00548-1. Commun Med (Lond). 2024. PMID: 38879606 Free PMC article.
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Ramakrishna NB, Mohamad Sahari UB, Johmura Y, Ali NA, Alghamdi M, Bauer P, Khan S, Ordoñez N, Ferreira M, Pinto Basto J, Alkuraya FS, Faqeih EA, Mori M, Almontashiri NAM, Al Shamsi A, ElGhazali G, Abu Subieh H, Al Ojaimi M, El-Hattab AW, Said Al-Kindi SA, Alhashmi N, Alhabshan F, Al Saman A, Tfayli H, Arabi M, Khalifeh S, Taylor A, Alfadhel M, Jain R, Sinha S, Shenbagam S, Ramachandran R, Altunoğlu U, Jacob A, Thalange N, El Bejjani M, Perrin A, Shin JW, Al-Maawali A, Al-Shidhani A, Al-Futaisi A, Rabea F, Chekroun I, Almarri MA, Ohta T, Nakanishi M, Alsheikh-Ali A, Ali FR, Bertoli-Avella AM, Reversade B, Abou Tayoun A. Ramakrishna NB, et al. Among authors: rabea f. Am J Hum Genet. 2025 May 1;112(5):1233-1246. doi: 10.1016/j.ajhg.2025.03.013. Epub 2025 Apr 10. Am J Hum Genet. 2025. PMID: 40215970