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Year | Number of Results |
---|---|
2021 | 4 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
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6 results
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Page 1
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10.
Ophthalmic Genet. 2022.
PMID: 35946463
No abstract available.
Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG, Zahoor MY, Iqbal M, Anjum AA, Ashraf F, Abbas HQ, Baig HMA, Mahmood T, Shehzad W.
Rasool IG, et al. Among authors: baig hma.
Genes Genomics. 2021 May;43(5):503-512. doi: 10.1007/s13258-021-01070-7. Epub 2021 Mar 12.
Genes Genomics. 2021.
PMID: 33710595
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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: baig hma.
Genes (Basel). 2023 Feb 3;14(2):404. doi: 10.3390/genes14020404.
Genes (Basel). 2023.
PMID: 36833331
Free PMC article.
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Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
Azhar Baig HM, Ansar M, Iqbal A, Naeem MA, Quinodoz M, Calzetti G, Iqbal M, Rivolta C.
Azhar Baig HM, et al.
Ophthalmic Res. 2022;65(1):104-110. doi: 10.1159/000520895. Epub 2021 Nov 15.
Ophthalmic Res. 2022.
PMID: 34781300
Free 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: baig hma.
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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P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.
Khan AA, Waryah YM, Iqbal M, Azhar Baig HM, Rafique M, Waryah AM.
Khan AA, et al. Among authors: azhar baig hm.
J Pak Med Assoc. 2021 Mar;71(3):816-821. doi: 10.47391/JPMA.256.
J Pak Med Assoc. 2021.
PMID: 34057927
Free article.
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