Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
A case of familial hypertriglyceridemia associated with a novel heterozygous AGPAT2 mutation.
AbuDujain NM et al.
Annals of Medicine and Surgery (2012), 2025
Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.
Hummadi A et al.
Clinical Case Reports, 2022
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0
Retinopathy and Uveitis in Congenital Generalized Lipodystrophy with Hypertriglyceridemia and Uncontrolled Diabetes (Berardinelli-Seip Syndrome).
Rubaie KA et al.
Middle East African Journal of Ophthalmology, 0
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