J.A. Rosenfeld

Discipline

Psychologie (1)

Type de document

Articles (5)

Co-auteur

Date

Source

Mot-clé

Deletion (4) Human beings (4) Autism (4) Number (4) ADN (3) enfant (3) Phenotype (3) Head (3) Evaluation (3) DNA (3) Chromosomes (3) Disabilities (3) Size (3) analyse (2) gène (2) évaluation (2) effet (2) comparaison (2) Comparison (2) Control (2) Cases (2) Genes (2) Will (2) Variations (2) Transportation (2) Patients (2) Parents (2) Expression (2) Epilepsy (2) Carriers (2)

Documents écrit par J.A. Rosenfeld (5) | parle de J.A. Rosenfeld (0)

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
B. Royer-Bertrand et al. (26 oct. 2021)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
L. Pizzo et al.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
M.N. Loviglio et al. (2017)
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D. et al. (2016)
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
P. Stankiewicz et al. (2012)