Associated Papers
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
33771153 (PubMed )
Supplement: 12920_2021_943_MOESM2_ESM.xls › Retained_Variants
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
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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