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Page 1
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Al Kaissi A, Ryabykh S, Nassib N, Bouchoucha S, Benjemaa L, Rejeb I, Hizem S, Kenis V, Grill F, Kircher SG, Shboul M, Ben Chehida F. Al Kaissi A, et al. Among authors: shboul m. Diagnostics (Basel). 2022 Sep 30;12(10):2375. doi: 10.3390/diagnostics12102375. Diagnostics (Basel). 2022. PMID: 36292064 Free PMC article.
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L, Maddirevula S, Aljamal B, Hamid H, Almulhim A, Hashem MO, Algoos Y, Alqahtani M, Albaloshi S, Alghamdi M, Alduaylij M, Shamseldin HE, Nadeef S, Patel N, Abdulwahab F, Abouyousef O, Alshidi T, Jaafar A, Abouelhoda M; Saudi Mendeliome Group; Alhazzani A, Alfares A, Qudair A, Alsulaiman A, Alhashem A, Khan AO, Chedrawi A, Alebdi B, AlAjlan F, Alotaibi F, Alzaidan H, Banjar H, Abdelraouf H, Alkuraya H, Abumansour I, Alfayez K, Tulbah M, Alowain M, Alqahtani M, El-Kalioby M, Shboul M, Sulaiman R, Al Tala S, Khan S, Coskun S, Mrouge S, Alenazi W, Rahbeeni Z, Alkuraya FS. AlAbdi L, et al. Among authors: shboul m. Med. 2024 Nov 5:100528. doi: 10.1016/j.medj.2024.10.005. Online ahead of print. Med. 2024. PMID: 39504961
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
Nabavizadeh N, Bressin A, Shboul M, Moreno Traspas R, Chia PH, Bonnard C, Szenker-Ravi E, Sarıbaş B, Beillard E, Altunoglu U, Hojati Z, Drutman S, Freier S, El-Khateeb M, Fathallah R, Casanova JL, Soror W, Arafat A, Escande-Beillard N, Mayer A, Reversade B. Nabavizadeh N, et al. Among authors: shboul m. EMBO Mol Med. 2023 Feb 8;15(2):e16478. doi: 10.15252/emmm.202216478. Epub 2023 Jan 18. EMBO Mol Med. 2023. PMID: 36652330 Free PMC article.
56 results