Albokhari D - Search Results

1

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. Albokhari D, et al. J Inherit Metab Dis. 2022 Sep;45(5):969-980. doi: 10.1002/jimd.12527. Epub 2022 Jun 30. J Inherit Metab Dis. 2022. PMID: 35716054 Free PMC article.

2

A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic.

Hong X, Alharbi H, Albokhari D, Edmondson AC, He M. Hong X, et al. Among authors: albokhari d. Clin Chem. 2022 Jul 3;68(7):987-989. doi: 10.1093/clinchem/hvac012. Clin Chem. 2022. PMID: 35780510 Free PMC article. No abstract available.

3

Milder presentation of autosomal dominant fatty acyl CoA reductase 1-related syndrome: Report of the first Middle Eastern patient and review of the literature.

Almuqbil M, AbuMelha A, Albokhari D. Almuqbil M, et al. Among authors: albokhari d. Clin Case Rep. 2022 Oct 13;10(10):e6307. doi: 10.1002/ccr3.6307. eCollection 2022 Oct. Clin Case Rep. 2022. PMID: 36254151 Free PMC article.

4

Genome-wide Gene-by-Sex Interaction Studies Identify Novel Nonsyndromic Orofacial Clefts Risk Locus.

Awotoye W, Comnick C, Pendleton C, Zeng E, Alade A, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Naicker T, Adeleke C, Busch T, Li M, Petrin A, Olotu J, Hassan M, Pape J, Miller SE, Donkor P, Anand D, Lachke SA, Marazita ML, Adeyemo AA, Murray JC, Albokhari D, Sobreira N, Butali A. Awotoye W, et al. Among authors: albokhari d. J Dent Res. 2022 Apr;101(4):465-472. doi: 10.1177/00220345211046614. Epub 2021 Oct 23. J Dent Res. 2022. PMID: 34689653 Free PMC article.

5

The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literature.

Albokhari D, Alharbi O, Blesson A, Jain M. Albokhari D, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006319. doi: 10.1101/mcs.a006319. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 38199782 Free PMC article. Review.

6

Venous malformation may be a feature of EXT1-related hereditary multiple exostoses: A report of two unrelated probands.

Albokhari D, Bailey CR, Hwang F, Weiss CR, Forsberg J, Sobreira N. Albokhari D, et al. Am J Med Genet A. 2023 Jun;191(6):1570-1575. doi: 10.1002/ajmg.a.63158. Epub 2023 Mar 4. Am J Med Genet A. 2023. PMID: 36869625

7

Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Albokhari D, et al. Am J Med Genet A. 2023 May;191(5):1261-1272. doi: 10.1002/ajmg.a.63142. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36797513 Review.

8

Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.

Awotoye W, Mossey PA, Hetmanski JB, Gowans LJJ, Eshete MA, Adeyemo WL, Alade A, Zeng E, Adamson O, James O, Fashina A, Ogunlewe MO, Naicker T, Adeleke C, Busch T, Li M, Petrin A, Oladayo A, Kayali S, Olotu J, Sule V, Hassan M, Pape J, Aladenika ET, Donkor P, Arthur FKN, Obiri-Yeboah S, Sabbah DK, Agbenorku P, Ray D, Plange-Rhule G, Oti AA, Albokhari D, Sobreira N, Dunnwald M, Beaty TH, Taub M, Marazita ML, Adeyemo AA, Murray JC, Butali A. Awotoye W, et al. Among authors: albokhari d. Cleft Palate Craniofac J. 2024 Apr;61(4):697-705. doi: 10.1177/10556656221135926. Epub 2022 Nov 16. Cleft Palate Craniofac J. 2024. PMID: 36384317

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