Associated Papers
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child.
Alfiya F et al.
Journal of Genetics, 2022
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.
Wang Y et al.
Experimental and Therapeutic Medicine, 2020
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Alrakaf L et al.
American Journal of Medical Genetics. Part A, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Select a paper to view details