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2020 | 1 |
2022 | 2 |
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Page 1
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16.
Clin Genet. 2023.
PMID: 37191084
Clinical and molecular features of four families with CLDN10-related HELIX syndrome.
Qudair A, Hussein M, Alowain M, Al-Hassnan ZN, Alfaifi A, Alfalah A, Al-Qahtani M, Alkuraya FS.
Qudair A, et al. Among authors: alfalah a.
Eur J Med Genet. 2023 Dec;66(12):104886. doi: 10.1016/j.ejmg.2023.104886. Epub 2023 Nov 18.
Eur J Med Genet. 2023.
PMID: 37984702
Review.
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Further delineation of HIDEA syndrome.
Maddirevula S, Ben-Omran T, AlMureikhi M, Eyaid W, Arabi H, Alkuraya H, Alfaifi A, Alfalah AH, Alsaif HS, Abdulwahab F, Alfadhel M, Alkuraya FS.
Maddirevula S, et al. Among authors: alfalah ah.
Am J Med Genet A. 2020 Dec;182(12):2999-3006. doi: 10.1002/ajmg.a.61885. Epub 2020 Sep 23.
Am J Med Genet A. 2020.
PMID: 32965080
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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Shamseldin HE, Derar N, Alzaidan H, AlHathal N, Alfalah A, Abdulwahab F, Alzaid T, Alkeraye S, Alobaida SA, Alkuraya FS.
Shamseldin HE, et al. Among authors: alfalah a.
Hum Genet. 2023 Apr;142(4):477-482. doi: 10.1007/s00439-023-02527-3. Epub 2023 Jan 30.
Hum Genet. 2023.
PMID: 36715754
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COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Altassan R, Sulaiman RA, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, Handoom B, Almesned M, Al-Amri H, Alhassnan Z, Alsayed MA, Alzaidan H, Rahbeeni Z, Derar N, Al-Owain M, Albanyan E.
Altassan R, et al. Among authors: alfalah a.
Eur J Med Genet. 2022 Nov;65(11):104602. doi: 10.1016/j.ejmg.2022.104602. Epub 2022 Aug 30.
Eur J Med Genet. 2022.
PMID: 36049607
Free PMC article.
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Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
AlTassan R, AlQudairy H, Alromayan R, Alfalah A, AlHarbi OA, González-Álvarez AC, Arold ST, Kaya N.
AlTassan R, et al. Among authors: alfalah a.
Genes (Basel). 2022 Nov 30;13(12):2252. doi: 10.3390/genes13122252.
Genes (Basel). 2022.
PMID: 36553519
Free PMC article.
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