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Year | Number of Results |
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2021 | 2 |
2023 | 3 |
2024 | 1 |
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Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257.
Brain. 2023.
PMID: 37517035
Free PMC article.
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.
Saadi SM, Cali E, Khalid LB, Yousaf H, Zafar G, Khan HN, Sher M, Vona B, Abdullah U, Malik NA, Klar J, Efthymiou S, Dahl N, Houlden H, Toft M, Baig SM, Fatima A, Iqbal Z.
Saadi SM, et al.
Genes (Basel). 2023 Jul 6;14(7):1404. doi: 10.3390/genes14071404.
Genes (Basel). 2023.
PMID: 37510308
Free PMC article.
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A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review.
Faryal S, Farooq M, Abdullah U, Ali Z, Saadi SM, Ullah F, Khan K, Sarwar Y, Sher M, Chopra AA, Tommerup N, Baig SM.
Faryal S, et al. Among authors: saadi sm.
Eur J Med Genet. 2021 Jul;64(7):104226. doi: 10.1016/j.ejmg.2021.104226. Epub 2021 Apr 16.
Eur J Med Genet. 2021.
PMID: 33872773
Review.
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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: saadi 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.
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Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.
Makhdoom EUH, Waseem SS, Iqbal M, Abdullah U, Hussain G, Asif M, Budde B, Höhne W, Tinschert S, Saadi SM, Yousaf H, Ali Z, Fatima A, Kaygusuz E, Khan A, Jameel M, Khan S, Tariq M, Anjum I, Altmüller J, Thiele H, Höning S, Baig SM, Nürnberg P, Hussain MS.
Makhdoom EUH, et al. Among authors: saadi sm.
Genes (Basel). 2021 May 13;12(5):731. doi: 10.3390/genes12050731.
Genes (Basel). 2021.
PMID: 34068194
Free PMC article.
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A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
Yousaf H, Rehmat S, Jameel M, Ibrahim R, Hashmi SN, Makhdoom EUH, Iwaszkiewicz J, Saadi SM, Tariq M, Baig SM, Toft M, Fatima A, Iqbal Z.
Yousaf H, et al. Among authors: saadi sm.
Clin Genet. 2023 Sep;104(3):324-333. doi: 10.1111/cge.14386. Epub 2023 Jun 15.
Clin Genet. 2023.
PMID: 37317634
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