Résultat de recherche

Defective palmitoylation of transferrin receptor triggers iron overload...

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy...

Deciphering the genetic origin of language development disorders in children...

Poly-GP accumulation due to C9orf72 loss of function induces motor neuron...

Vincent Cantagrel

Chloride deregulation and GABA depolarization in MTOR-related malformations...

Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular...

Compromised mitochondrial quality control triggers lipin1-related rhab...

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome...

Jean-Laurent Casanova’s pioneering genetic discoveries earn him the 2025...

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndro...

Anatomy and mobility in the adult cadaveric craniocervical junction.

New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric...

Next generation phenotyping for diagnosis and phenotype-genotype correlations...

Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function...

Jean-Laurent Casanova

Lucile Couronné

Modeling NK-cell lymphoma in mice reveals its cell-of-origin and microenvironmental...

Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver...

Allogeneic hematopoietic stem cell transplantation for NK/T-cell lymphoma:...