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Page 1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Al Amrani F, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ. Chong JX, et al. Among authors: al amrani f. HGG Adv. 2023 Jun 15;4(3):100213. doi: 10.1016/j.xhgg.2023.100213. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37457373 Free PMC article.
Biallelic LINE insertion mutation in HACD1 causing congenital myopathy.
Al Amrani F, Gorodetsky C, Hazrati LN, Amburgey K, Gonorazky HD, Dowling JJ. Al Amrani F, et al. Neurol Genet. 2020 Apr 13;6(3):e423. doi: 10.1212/NXG.0000000000000423. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32426512 Free PMC article. No abstract available.
Unusual Presentation for Unusual Location of Brain Abscess.
Al-Amrani F, Al-Ajmi E, Salam B, Al-Sulaimi J, Al-Yazidi L. Al-Amrani F, et al. Among authors: al sulaimi j, al ajmi e, al yazidi l. Pediatr Infect Dis J. 2023 May 1;42(5):e180-e181. doi: 10.1097/INF.0000000000003838. Epub 2023 Jan 19. Pediatr Infect Dis J. 2023. PMID: 36728031 No abstract available.
Scapular Winging in a Child.
Al-Rashdi J, Al-Hashmi S, Al-Amrani F. Al-Rashdi J, et al. Among authors: al amrani f. Oman Med J. 2023 Sep 28;38(5):e561. doi: 10.5001/omj.2023.112. eCollection 2023 Sep. Oman Med J. 2023. PMID: 37789882 Free PMC article. No abstract available.
24 results