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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS One. 2013 Nov 12;8(11):e78496. doi: 10.1371/journal.pone.0078496. eCollection 2013.
PLoS One. 2013.
PMID: 24265693
Free PMC article.
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
Jelani M, Ahmed S, Almramhi MM, Mohamoud HS, Bakur K, Anshasi W, Wang J, Al-Aama JY.
Jelani M, et al. Among authors: bakur k.
Eur J Med Genet. 2015 Apr;58(4):216-21. doi: 10.1016/j.ejmg.2015.02.002. Epub 2015 Feb 23.
Eur J Med Genet. 2015.
PMID: 25721873
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Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).
Alrayes N, Mohamoud HS, Jelani M, Ahmad S, Vadgama N, Bakur K, Simpson M, Al-Aama JY, Nasir J.
Alrayes N, et al. Among authors: bakur k.
BMC Res Notes. 2015 Jun 27;8:271. doi: 10.1186/s13104-015-1227-4.
BMC Res Notes. 2015.
PMID: 26113134
Free PMC article.
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Erratum: Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.
Gaboon NEA, Bakur KH, Edrees AY, Al-Aama JY.
Gaboon NEA, et al. Among authors: bakur kh.
J Pediatr Genet. 2017 Sep;6(3):e1. doi: 10.1055/s-0037-1603198. Epub 2017 May 10.
J Pediatr Genet. 2017.
PMID: 30800486
Free PMC article.
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Attitude toward Prenatal Testing and Termination of Pregnancy among Health Professionals and Medical Students in Saudi Arabia.
A Gaboon NE, Bakur KH, Edrees AY, Al-Aama JY.
A Gaboon NE, et al. Among authors: bakur kh.
J Pediatr Genet. 2017 Sep;6(3):149-154. doi: 10.1055/s-0037-1600131. Epub 2017 Mar 16.
J Pediatr Genet. 2017.
PMID: 28798887
Free PMC article.
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Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.
Bakur KH, Al-Aama JY, Alhassnan ZN, Brooks H, Clancy T, Manea W, Takroni SA, Ulph F.
Bakur KH, et al.
J Genet Couns. 2022 Aug;31(4):922-936. doi: 10.1002/jgc4.1562. Epub 2022 Feb 22.
J Genet Couns. 2022.
PMID: 35194886
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Detection of Secondary Metabolites as Biomarkers for the Early Diagnosis and Prevention of Type 2 Diabetes.
Al-Aama JY, Al Mahdi HB, Salama MA, Bakur KH, Alhozali A, Mosli HH, Bahijri SM, Bahieldin A, Willmitzer L, Edris S.
Al-Aama JY, et al. Among authors: bakur kh.
Diabetes Metab Syndr Obes. 2019 Dec 17;12:2675-2684. doi: 10.2147/DMSO.S215528. eCollection 2019.
Diabetes Metab Syndr Obes. 2019.
PMID: 31908508
Free PMC article.
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