Associated Papers
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3
Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.
Luo H et al.
The Journal of Investigative Dermatology, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.
John SE et al.
Scientific Reports, 2018
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Taylan F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.
John SE et al.
Genomics Data, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
SNP-based large-scale identification of allele-specific gene expression in human B cells.
Song MY et al.
Gene, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Hendig D et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
Schön S et al.
Journal of Medical Genetics, 2006
Mutational and functional analyses of xylosyltransferases and their implication in osteoarthritis.
Schön S et al.
Osteoarthritis and Cartilage, 2006
Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Schön S et al.
Kidney International, 2005
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