Associated Papers
Pilot clinical trial and phenotypic analysis in chemotherapy-pretreated, metastatic triple-negative breast cancer patients treated with oral TAK-228 and TAK-117 (PIKTOR) to increase DNA damage repair deficiency followed by cisplatin and nab paclitaxel.
Lang JD et al.
Biomarker Research, 2023
37491309 (PubMed )
Supplement: 40364_2023_511_MOESM16_ESM.xlsx › 06BH
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3
The genomic landscape of blood groups in Indigenous Australians in remote communities.
Jadhao S et al.
Transfusion, 2022
35403234 (PubMed )
Supplement: TRF-62-1110-s001.xlsx › Supplementary_Table_3
RBCeq: A robust and scalable algorithm for accurate genetic blood typing.
Jadhao S et al.
Ebiomedicine, 2022
35033986 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table11
Congenital disorders of glycosylation with defective fucosylation.
Hüllen A et al.
Journal of Inherited Metabolic Disease, 2021
Leukocyte adhesion defect: Where do we stand circa 2019?
Das J et al.
Genes & Diseases, 2020
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-A2-A04Y-01A.domain
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
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