Associated Papers
Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans.
Suri RS et al.
Kidney International, 2022
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.
Chia PH et al.
Elife, 2018
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 › d__Freq_TP093
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
Bakhchane A et al.
Plos One, 2017
28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
28993730 (PubMed )
Supplement: Table3.xlsx › Germline
Somatically mutated ABL1 is an actionable and essential NSCLC survival gene.
Testoni E et al.
Embo Molecular Medicine, 2016
26758680 (PubMed )
Supplement: EMMM-8-105-s006.xlsx › H2110_mutations_cBio
The exon 4 variations of Tim-1 gene are associated with rheumatoid arthritis in a Korean population.
Chae SC et al.
Biochemical and Biophysical Research Communications, 2004
The association of the exon 4 variations of Tim-1 gene with allergic diseases in a Korean population.
Chae SC et al.
Biochemical and Biophysical Research Communications, 2003
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