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Page 1
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Ali Z, Abdulllah U, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Fatima A, Cheema HA, Anjum MN, Morel G, Robin S, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Chatron N, Rossi M, Murtaza BN, Ur Rehman M, Lord J, Giacopuzzi E, Hayat A, Siraj M; SYNAPS Study Group; Badv RS, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Chandler K, Kershaw C, Wright T, Banka S, Gleeson JG, Taylor JC, Efthymiou S, Baig SM, Severino M, Jepson JEC, Houlden H. Aughey GN, et al. Among authors: saadi sm. Brain. 2024 Dec 18:awae363. doi: 10.1093/brain/awae363. Online ahead of print. Brain. 2024. PMID: 39692517
Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.
Werren EA, Rodriguez Bey G, Majethia P, Kaur P, Patil SJ, Kekatpure MV, Afenjar A, Qebibo L, Burglen L, Tomoum H, Demurger F, Duborg C, Siddiqui S, Tsan YC, Abdullah U, Ali Z, Saadi SM, Baig SM, Houlden H, Maroofian R, Padiath QS, Bielas SL, Shukla A. Werren EA, et al. Among authors: saadi sm. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. Brain. 2024. PMID: 39292993
Home and Community-Based Services: A Systematic Review and Evidence Map.
Murad MH, Nayfeh T, Saadi S, Farah MH, Njeru JW, Viola KE, Chen CYY, Prokop LJ, Wang Z. Murad MH, et al. Among authors: saadi s. J Gen Intern Med. 2024 Dec;39(16):3315-3321. doi: 10.1007/s11606-024-08993-3. Epub 2024 Aug 13. J Gen Intern Med. 2024. PMID: 39136886
Measuring Documentation Burden in Healthcare.
Murad MH, Vaa Stelling BE, West CP, Hasan B, Simha S, Saadi S, Firwana M, Viola KE, Prokop LJ, Nayfeh T, Wang Z. Murad MH, et al. Among authors: saadi s. J Gen Intern Med. 2024 Nov;39(14):2837-2848. doi: 10.1007/s11606-024-08956-8. Epub 2024 Jul 29. J Gen Intern Med. 2024. PMID: 39073484
200 results