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Update of Thyroid Developmental Genes.
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in...
DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down...
RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human...
TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet...
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
Human inborn errors of immunity to infection affecting cells other than...
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients...
SeqTailor: a user-friendly webserver for the extraction of DNA or protein...
Blacklisting variants common in private cohorts but not in public databases...
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL...
PopViz: a webserver for visualizing minor allele frequencies and damage...
Rescue of recurrent deep intronic mutation underlying cell type-dependent...
HCV-Associated Liver Fibrosis and HSD17B13.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused...
Life-threatening influenza pneumonitis in a child with inherited IRF9 ...
Disruption of an antimycobacterial circuit between dendritic and helper...
Incomplete penetrance for isolated congenital asplenia in humans with mutations...
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity...
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