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Page 1
Syntaxin 4 is essential for hearing in human and zebrafish.
Hum Mol Genet. 2023 Mar 20;32(7):1184-1192. doi: 10.1093/hmg/ddac257.
Hum Mol Genet. 2023.
PMID: 36355422
Free PMC article.
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.
Ghaffar A, Rasheed F, Rashid M, van Bokhoven H, Ahmed ZM, Riazuddin S, Riazuddin S.
Ghaffar A, et al.
Eur J Hum Genet. 2022 Feb;30(2):243-247. doi: 10.1038/s41431-021-00968-w. Epub 2021 Nov 8.
Eur J Hum Genet. 2022.
PMID: 34750527
Free PMC article.
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Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT, Ghaffar A, Rashid M, Hovey LT, Hussain M, Frees K, Renkes EM, Nishimura CJ, Shahzad M, Smith RJ, Ahmed Z, Azaiez H, Riazuddin S.
Booth KT, et al. Among authors: ghaffar a.
Hum Genet. 2020 Dec;139(12):1565-1574. doi: 10.1007/s00439-020-02197-5. Epub 2020 Jun 19.
Hum Genet. 2020.
PMID: 32562050
Free PMC article.
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A Missense Variant in HACE1 Is Associated with Intellectual Disability, Epilepsy, Spasticity, and Psychomotor Impairment in a Pakistani Kindred.
Usmani MA, Ghaffar A, Shahzad M, Akram J, Majeed AI, Malik K, Fatima K, Khan AA, Ahmed ZM, Riazuddin S, Riazuddin S.
Usmani MA, et al. Among authors: ghaffar a.
Genes (Basel). 2024 May 2;15(5):580. doi: 10.3390/genes15050580.
Genes (Basel). 2024.
PMID: 38790209
Free PMC article.
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