Muthaffar OY - Search Results

1

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Zaman Q, Iftikhar A, Rehman G, Khan Q, Najumuddin, Jan A, Khan J, Anas M, Laiba, Umair M, Muthaffar OY, Abdulkareem AA, Bibi F, Naseer MI, Jelani M. Zaman Q, et al. Among authors: muthaffar oy. J Gene Med. 2023 Oct;25(10):e3522. doi: 10.1002/jgm.3522. Epub 2023 Apr 29. J Gene Med. 2023. PMID: 37119015

2

Reply from the author.

Muthaffar O. Muthaffar O. Saudi Med J. 2014 Nov;35(11):1419. Saudi Med J. 2014. PMID: 25774399 No abstract available.

3

Evaluation of Health Science Students' Health Fatalism and Perception Towards Patients With Epilepsy: A Cross-Sectional Global Study.

Alyazidi AS, Muthaffar OY, Alotibi FA, Almubarak A, Tamai L, Takieddin SZ, Alghamdi M, Alraddadi YK. Alyazidi AS, et al. Among authors: muthaffar oy. Cureus. 2022 Oct 7;14(10):e30030. doi: 10.7759/cureus.30030. eCollection 2022 Oct. Cureus. 2022. PMID: 36381863 Free PMC article.

4

Treatment of drop attacks: Anti-seizure drug choices of pediatric neurologists in Saudi Arabia.

Alhiniah M, Alshahrani A, Rajab R, Alelyani R, Badawi A, Abbar A, Abdulsbhan M, Alrajhi A, Muthaffar O, Jan M. Alhiniah M, et al. Neurosciences (Riyadh). 2023 Jul;28(3):170-176. doi: 10.17712/nsj.2023.3.20230008. Neurosciences (Riyadh). 2023. PMID: 37482388 Free PMC article.

5

Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis.

Liba Z, Muthaffar O, Tang J, Minassian B, Halliday W, Branson H, Ann Yeh E. Liba Z, et al. Neurol Neuroimmunol Neuroinflamm. 2015 Feb 12;2(2):e69. doi: 10.1212/NXI.0000000000000069. eCollection 2015 Apr. Neurol Neuroimmunol Neuroinflamm. 2015. PMID: 25738166 Free PMC article. No abstract available.

6

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly.

Naseer MI, Abdulkareem AA, Muthaffar OY, Sogaty S, Alkhatabi H, Almaghrabi S, Chaudhary AG. Naseer MI, et al. Among authors: muthaffar oy. Front Pediatr. 2021 Feb 11;8:627122. doi: 10.3389/fped.2020.627122. eCollection 2020. Front Pediatr. 2021. PMID: 33643967 Free PMC article.

7

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.

Naseer MI, Pushparaj PN, Abdulkareem AA, Muthaffar OY. Naseer MI, et al. Among authors: muthaffar oy. Front Pediatr. 2022 Feb 21;9:829251. doi: 10.3389/fped.2021.829251. eCollection 2021. Front Pediatr. 2022. PMID: 35265569 Free PMC article.

8

Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families.

Naseer MI, Abdulkareem AA, Rasool M, Shirah B, Algahtani H, Muthaffar OY, Pushparaj PN. Naseer MI, et al. Among authors: muthaffar oy. Saudi J Biol Sci. 2022 Jul;29(7):103309. doi: 10.1016/j.sjbs.2022.103309. Epub 2022 May 20. Saudi J Biol Sci. 2022. PMID: 35663845 Free PMC article.

9

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.

Naseer MI, Abdulkareem AA, Pushparaj PN, Saharti S, Muthaffar OY. Naseer MI, et al. Among authors: muthaffar oy. Front Pediatr. 2022 May 24;10:862722. doi: 10.3389/fped.2022.862722. eCollection 2022. Front Pediatr. 2022. PMID: 35685919 Free PMC article.

10

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Naseer MI, Abdulkareem AA, Rasool M, Algahtani H, Muthaffar OY, Pushparaj PN. Naseer MI, et al. Among authors: muthaffar oy. Front Pediatr. 2022 Jun 22;10:919996. doi: 10.3389/fped.2022.919996. eCollection 2022. Front Pediatr. 2022. PMID: 35813387 Free PMC article.

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