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Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.
Biochem Genet. 2024 Feb 26. doi: 10.1007/s10528-023-10637-w. Online ahead of print.
Biochem Genet. 2024.
PMID: 38407766
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.
Mohajeri MSA, Eslahi A, Khazaii Z, Moradi MR, Pazhoomand R, Farrokhi S, Feizabadi MH, Alizadeh F, Mojarrad M.
Mohajeri MSA, et al. Among authors: feizabadi mh.
Hum Genomics. 2021 Jul 8;15(1):42. doi: 10.1186/s40246-021-00343-2.
Hum Genomics. 2021.
PMID: 34238371
Free PMC article.
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Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H.
Neuray C, et al. Among authors: feizabadi mh.
Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178.
Brain. 2020.
PMID: 32705143
Free PMC article.
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