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Page 1
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Nat Commun. 2023 Apr 11;14(1):2026. doi: 10.1038/s41467-023-37703-6.
Nat Commun. 2023.
PMID: 37041148
Free PMC article.
Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.
Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M.
Nawaz H, et al. Among authors: paracha sa.
Genes (Basel). 2023 May 19;14(5):1113. doi: 10.3390/genes14051113.
Genes (Basel). 2023.
PMID: 37239474
Free PMC article.
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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M.
Rao AR, et al. Among authors: paracha sa.
Genes (Basel). 2023 Feb 3;14(2):404. doi: 10.3390/genes14020404.
Genes (Basel). 2023.
PMID: 36833331
Free PMC article.
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Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
Mattioli F, Darvish H, Paracha SA, Tafakhori A, Firouzabadi SG, Chapi M, Baig HMA, Reymond A, Antonarakis SE, Ansar M.
Mattioli F, et al. Among authors: paracha sa.
NPJ Genom Med. 2021 Nov 11;6(1):94. doi: 10.1038/s41525-021-00255-z.
NPJ Genom Med. 2021.
PMID: 34764295
Free PMC article.
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Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE.
Ansar M, et al. Among authors: paracha sa.
Hum Mol Genet. 2019 Mar 15;28(6):972-979. doi: 10.1093/hmg/ddy406.
Hum Mol Genet. 2019.
PMID: 30481285
Free PMC article.
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE.
Ansar M, et al. Among authors: paracha sa.
Genet Med. 2018 Jul;20(7):778-784. doi: 10.1038/gim.2017.113. Epub 2017 Aug 24.
Genet Med. 2018.
PMID: 28837161
Free article.
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Success of 14-day triple and quadruple therapy for the control of Helicobacter pylori infections in Kohat district.
Shah SF, Paracha SA, Ullah W, Muhammad I, Iqbal S, Gul A, Hussain M, Ullah H, Zaman S.
Shah SF, et al. Among authors: paracha sa.
Drug Target Insights. 2022 Dec 19;16:49-53. doi: 10.33393/dti.2022.2481. eCollection 2022 Jan-Dec.
Drug Target Insights. 2022.
PMID: 36582782
Free PMC article.
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