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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: kizhakkedath p. Front Genet. 2024 Feb 12;15:1314535. doi: 10.3389/fgene.2024.1314535. eCollection 2024. Front Genet. 2024. PMID: 38410152 Free PMC article.
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: kizhakkedath p. Front Pediatr. 2023 Jul 12;11:1183574. doi: 10.3389/fped.2023.1183574. eCollection 2023. Front Pediatr. 2023. PMID: 37502193 Free PMC article.
Utility of clinical exome sequencing in a complex Emirati pediatric cohort.
Mahfouz NA, Kizhakkedath P, Ibrahim A, El Naofal M, Ramaswamy S, Harilal D, Qutub Y, Uddin M, Taylor A, Alloub Z, AlBanna A, Abuhammour W, Fathalla B, Tayoun AA. Mahfouz NA, et al. Among authors: kizhakkedath p. Comput Struct Biotechnol J. 2020 Apr 22;18:1020-1027. doi: 10.1016/j.csbj.2020.04.013. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32382396 Free PMC article.
14 results