Résultat de recherche

A novel genetic architecture of infectious diseases.

Laurent Abel

Source :

Pmid / DOI:

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Jeanne Amiel, Nancy Vegas, Chris Gordon, Clémantine Dimartino, Stanislas Lyonnet

Source :

Pmid / DOI:

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

Sylvain Ernest

Source :

Pmid / DOI:

A genomic region encompassing a newly identified exon provides enhancing activity sufficient for normal myo7aa expression in zebrafish sensory hair cells.

Sylvain Ernest

Source :

Pmid / DOI:

Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.

Geneviève de Saint Basile, Alain Fischer, Fernando Sepulveda , Frédéric Guérin

Source :

Pmid / DOI:

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

Geneviève de Saint Basile, Fernando Sepulveda

Source :

Pmid / DOI: