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145 results

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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: baig 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: baig sm. Brain. 2024 Dec 3;147(12):4033-4042. doi: 10.1093/brain/awae299. Brain. 2024. PMID: 39292993
Molecular genetics, neuroimaging outcomes, and structural analyses of novel and recurrent variants of WDR62 gene in two consanguineous Pakistani families with autosomal recessive primary microcephaly.
Aslam K, Saeed A, Saeed HI, Bashir R, Abid H, Akhtar R, Habib N, Khan R, Asif R, Rafiq S, Asif M, Makhdoom EUH, Hussain MS, Baig SM, Anjum I. Aslam K, et al. Among authors: baig sm. Mol Biol Rep. 2024 Jun 26;51(1):783. doi: 10.1007/s11033-024-09728-7. Mol Biol Rep. 2024. PMID: 38926176
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G, Cali E, Maroofian R, Zaki MS, Pagnamenta AT, Rahman F, Menzies L, Shafique A, Suri M, Roze E, Aguennouz M, Ghizlane Z, Saadi SM, Ali Z, Abdulllah U, Cheema HA, Anjum MN, Morel G, McFarland R, Altunoglu U, Kraus V, Shoukier M, Murphy D, Flemming K, Yttervik H, Rhouda H, Lesca G, Murtaza BN, Rehman MU; SYNAPS Study Group; Consortium GE, Seo GH, Beetz C, Kayserili H, Krioulie Y, Chung WK, Naz S, Maqbool S, Gleeson J, Baig SM, Efthymiou S, Taylor JC, Severino M, Jepson JE, Houlden H. Aughey G, et al. Among authors: baig sm. medRxiv [Preprint]. 2024 May 5:2024.05.03.24306631. doi: 10.1101/2024.05.03.24306631. medRxiv. 2024. PMID: 38746364 Free PMC article. Preprint.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Asif M, Khayyat AIA, Alawbathani S, Abdullah U, Sanner A, Georgomanolis T, Haasters J, Becker K, Budde B, Becker C, Thiele H, Baig SM, Isidoro-García M, Winter D, Pogoda HM, Muhammad S, Hammerschmidt M, Kraft F, Kurth I, Martin HG, Wagner M, Nürnberg P, Hussain MS. Asif M, et al. Among authors: baig sm. Genet Med. 2024 Jul;26(7):101143. doi: 10.1016/j.gim.2024.101143. Epub 2024 Apr 16. Genet Med. 2024. PMID: 38641995 Free article.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Among authors: baig sm. Mov Disord. 2024 Jun;39(6):983-995. doi: 10.1002/mds.29754. Epub 2024 Apr 6. Mov Disord. 2024. PMID: 38581205
145 results