L. Faivre

Discipline

Psychologie (1)

Type de document

Articles (7)

Co-auteur

Date

Source

Mot-clé

Human beings (5) Phenotype (4) Series (4) protéine (3) gène (3) maladie (3) adulte (3) Causes (3) Cases (3) Patients (3) Mice (3) Animals (3) Adulthood (3) Cases (3) Patients (3) adulte (3) maladie (3) région (2) mutation (2) perte (2) analyse (2) ADN (2) Deletion (2) Genes (2) Impact (2) Head (2) Gene expression (2) Expression (2) Dystrophy (2) DNA (2)

Documents écrit par L. Faivre (7) | parle de L. Faivre (0)

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
C. Montillot et al.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
S.C. Collins et al.
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
P.H. Gabrielle et al. (12 août 2021)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
L. Pizzo et al.
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
G. Manes et al.
Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling
P. Callier et al.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
S. Jacquemont et al. (2011)