Associated Papers
Single-Nucleotide Polymorphisms Associated with Mercury Levels and Neurological Symptoms: An Overview.
Perini JA et al.
Toxics, 2024
38535959 (PubMed )
Supplement: toxics-12-00226-s001.zip › toxics-2905208-supplementary.pdf
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
Esposito T et al.
Orphanet Journal of Rare Diseases, 2013
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.
Valencia CA et al.
The Journal of Molecular Diagnostics : Jmd, 0
Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.
Dello Russo C et al.
Journal of Prenatal Medicine, 0
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