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Page 1
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Mohamed FE, Ghattas MA, Almansoori TM, Tabouni M, Baydoun I, Kizhakkedath P, John A, Alblooshi H, Shaukat Q, Al-Jasmi F. Mohamed FE, et al. Among authors: baydoun i. Front Pediatr. 2023 Jul 12;11:1183574. doi: 10.3389/fped.2023.1183574. eCollection 2023. Front Pediatr. 2023. PMID: 37502193 Free PMC article.
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N, Al Mansoori G, Al Zaabi A, Badics A, Al Dhaheri N, Al Shamsi A, Al Tenaiji A, Alzohily B, Almesmari FSA, Al Hammadi H, Al Dhahouri N, Irshaid M, Kizhakkedath P, Al Shibli F, Tabouni M, Allam M, Baydoun I, Alblooshi H, Ali BR, Foo RS, Al Jasmi F. Akawi N, et al. Among authors: baydoun i. Front Mol Biosci. 2024 Oct 1;11:1451457. doi: 10.3389/fmolb.2024.1451457. eCollection 2024. Front Mol Biosci. 2024. PMID: 39411402 Free PMC article.
Spectrum of genetic variants in bilateral sensorineural hearing loss.
Ali A, Tabouni M, Kizhakkedath P, Baydoun I, Allam M, John A, Busafared F, Alnuaimi A, Al-Jasmi F, Alblooshi H. Ali A, et al. Among authors: baydoun i. Front Genet. 2024 Feb 12;15:1314535. doi: 10.3389/fgene.2024.1314535. eCollection 2024. Front Genet. 2024. PMID: 38410152 Free PMC article.