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Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome.

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Leber congenital amaurosis--genotyping required for possible inclusion in a clinical trial.

Isabelle PERRAULT, Jean-Michel Rozet, Arnold Munnich

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The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Jean-Michel Rozet, Arnold Munnich

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Mariner is defective in myosin VIIA: a zebrafish model for human hereditary deafness.

Sylvain Ernest

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Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

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Digitoxin metabolism by rat liver microsomes.

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Atomic models for the polypeptide backbones of myohemerythrin and hemerythrin.

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Integrating multi-scale knowledge on cardiac development into a computational model of ventricular trabeculation.

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Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Lydie Burglen

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New Publication

emmanuel lefevre, Admin LMC, Benjamin Couderc

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Neuroinflammatory disorders and mastocytosis: A possible association?

Olivier Hermine

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Omalizumab Therapy for Mast Cell-Mediator Symptoms in Patients with ISM, CM, MMAS, and MCAS.

Laurent Frenzel, Olivier Hermine

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New Publication

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New Publication

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