Associated Papers
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism
Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.
Egan JB et al.
Plos One, 2014
24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
Exomic sequencing of four rare central nervous system tumor types.
Bettegowda C et al.
Oncotarget, 2013
23592488 (PubMed )
Supplement: oncotarget-04-572-s001.xlsx › supp_table_1c
Sequence variations of GRM6 in patients with high myopia.
Xu X et al.
Molecular Vision, 2009
The identification and functional implications of human-specific "fixed" amino acid substitutions in the glutamate receptor family.
Goto H et al.
Bmc Evolutionary Biology, 2009
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