A. Renieri

Discipline

Anthropologie biologique (2) Economies et finances (1)

Type de document

Articles (9)

Co-auteur

Date

Source

Mot-clé

Human beings (6) gène (5) maladie (4) Phenotype (4) Genes (4) Patients (4) Patients (4) Number (4) maladie (4) Deletion (3) Cases (3) Abnormalities (3) Impact (3) Plants--Abnormalities (3) Animals--Abnormalities (3) Abnormalities, Human (3) Cases (3) Disabilities (3) roman (3) puits (2) mise sous écran protecteur (2) région (2) protéine (2) cartographie (cartes) (2) gestion (2) analyse (2) évaluation (2) ADN (2) Diagnosis (2) Defects (2)

Documents écrit par A. Renieri (9) | parle de A. Renieri (0)

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
S.C. Collins et al.
Natural history of KBG syndrome in a large European cohort.
L. Loberti et al. (16 déc. 2022)
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
G. Povysil et al.
A first update on mapping the human genetic architecture of COVID-19
G. A. Pathak et al.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
L. Pizzo et al.
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
C. Reggiani et al. (19 juil. 2017)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
S. Jacquemont et al. (2011)
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
L. Micale et al. (2011)
Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls.
P. Makrythanasis et al. (2009)