CNRGH
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Novel landscape of HLA-G isoforms expressed in clear cell renal cell carcinoma patients.
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Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
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Charmet R. et al.
Association of impaired renal function with venous thrombosis: A genetic risk score approach.
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Recessive myopalladin mutations cause congenital cap myopathy with unusual rods.
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Nelson I. et al.
Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy.
Neuromus. Dis. (2017) Oct. 27: S139-S140.
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Troudet R. et al.
RNA signature and prediction to treatment response in first episode schizophrenia.
European Neuropsychopharm. (2017) Oct. 27: S597-S597.
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Homozygous truncating variants in TBC1D23 cause Pontocerebellar Hypoplasia and alter cortical development.
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Su XP. et al.
NSD1 inactivation and SETD2 mutation drive a convergence toward loss of function of H3K36 writers in Clear Cell Renal Cell Carcinomas.
Cancer Res. (2017) Sept. 77 (18): 4835-4845
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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
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Curtit E. et al.
Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes.
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