Résultat de recherche

New Publication

Source :

Pmid / DOI:

New Publication

Source :

Pmid / DOI:

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

Christelle Arrondel, Tania Attié-Bitach, Corinne Antignac, Sophie Saunier, Laurence Heidet

Source :

Pmid / DOI:

Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.

Source :

Pmid / DOI:

Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes

Source :

Pmid / DOI:

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

Source :

Pmid / DOI:

Cell-ID: gene signature extraction and cell identity recognition at individual cell levelation

Source :

Pmid / DOI:

Primary immunodeficiencies suggest redundancy within the human immune system

Source :

Pmid / DOI:

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Karine Siquier , Agnès Rötig, Stanislas Lyonnet, Giulia Barcia, Vincent Cantagrel, Olivier Hermine

Source :

Pmid / DOI:

MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.

Lydie Burglen

Source :

Pmid / DOI:

Mosaic Heterochrony in Neural Progenitors Sustains Accelerated Brain Growth and Neurogenesis in the Juvenile Killifish N. furzeri.

Marion Coolen

Source :

Pmid / DOI: