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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary...
Endoplasmic reticulum-retained podocin mutants are massively degraded by...
Lysosomal Targeting of Cystinosin Requires AP-3.
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of...
Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlled...
Mouse models of Hirschsprung disease and other developmental disorders...
EBGene trial: patient preselection outcomes for the European GENEGRAFT...
Digitoxin metabolism by rat liver microsomes.
Mutations in PERP Cause Dominant and Recessive Keratoderma.
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa...
APOBEC mutation drives early-onset squamous cell carcinomas in recessive...
Intradermal Injection of Bone Marrow Mesenchymal Stromal Cells Corrects...
Diacerein orphan drug development for epidermolysis bullosa simplex: A...
Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7...
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring...
Segmented filamentous bacterium uses secondary and tertiary lymphoid tissues...
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