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Year | Number of Results |
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Page 1
Hereditary Hyperekplexia in Saudi Arabia.
Pediatr Neurol. 2022 Sep;134:78-82. doi: 10.1016/j.pediatrneurol.2022.06.015. Epub 2022 Jun 24.
Pediatr Neurol. 2022.
PMID: 35841715
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS.
AlAbdi L, et al.
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
Nat Commun. 2023.
PMID: 37644014
Free PMC article.
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KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Almannai M, AlAbdi L, Maddirevula S, Alotaibi M, Alsaleem BM, Aljadhai YI, Alsaif HS, Abukhalid M, Alkuraya FS.
Almannai M, et al. Among authors: abukhalid m.
Hum Genet. 2023 Mar;142(3):399-405. doi: 10.1007/s00439-022-02513-1. Epub 2022 Dec 23.
Hum Genet. 2023.
PMID: 36564622
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Genetics of ataxia telangiectasia in a highly consanguineous population.
Al-Muhaizea MA, Aldeeb H, Almass R, Jaber H, Binhumaid F, Alquait L, Abukhalid M, Aldhalaan H, Alsagob M, Al-Bakheet A, Aldosary M, Alkofide H, Alrasheed MM, Colak D, Kaya N.
Al-Muhaizea MA, et al. Among authors: abukhalid m.
Ann Hum Genet. 2022 Jan;86(1):34-44. doi: 10.1111/ahg.12445. Epub 2021 Sep 28.
Ann Hum Genet. 2022.
PMID: 34582042
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KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.
Borlot F, Abushama A, Morrison-Levy N, Jain P, Puthenveettil Vinayan K, Abukhalid M, Aldhalaan HM, Almuzaini HS, Gulati S, Hershkovitz T, Konanki R, Lingappa L, Luat AF, Shafi S, Tabarki B, Thomas M, Yoganathan S, Alfadhel M, Arya R, Donner EJ, Ehaideb SN, Gowda VK, Jain V, Madaan P, Myers KA, Otsubo H, Panda P, Sahu JK, Sampaio LPB, Sharma S, Simard-Tremblay E, Zak M, Whitney R.
Borlot F, et al. Among authors: abukhalid m.
Epilepsia. 2020 Apr;61(4):679-692. doi: 10.1111/epi.16480. Epub 2020 Mar 13.
Epilepsia. 2020.
PMID: 32167590
Free article.
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Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Alyamani SA, Aldhalaan HM, Almuhaizea MA, Abukhalid MF.
Alyamani SA, et al. Among authors: abukhalid mf.
Neurosciences (Riyadh). 2023 Jul;28(3):195-198. doi: 10.17712/nsj.2023.3.20220131.
Neurosciences (Riyadh). 2023.
PMID: 37482377
Free PMC article.
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