Associated Papers
Functional Variation in Human CAZyme Genes in Relation to the Efficacy of a Carbohydrate-Restricted Diet in IBS Patients.
Zamfir-Taranu A et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025
Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.
Spena S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Whole-exome sequencing in multiplex preeclampsia families identifies novel candidate susceptibility genes.
Melton PE et al.
Journal of Hypertension, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Uniparental disomy causes deficiencies of vitamin K-dependent proteins.
Dasi MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients.
Gorski MM et al.
Blood, 2016
Host genetic variation impacts microbiome composition across human body sites.
Blekhman R et al.
Genome Biology, 2015
26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.pdf
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.
Kuokkanen M et al.
American Journal of Human Genetics, 2006
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