S. Lebon

Discipline

Anthropologie biologique (2) Sociologie (1) Psychologie (1)

Type de document

Articles (15) Recensions (3)

Co-auteur

Date

Source

Mot-clé

Human beings (9) enfant (6) Cases (5) Patients (5) Cases (5) Patients (5) association (4) gène (4) Case (4) Phenotype (4) Social groups (4) Pregnancy (4) Grammar, Comparative and general--Case (4) Epilepsy (4) Case (4) Pregnancy (4) puits (3) maladie (3) Deletion (3) Example (3) Corpus callosum (3) Carriers (3) Autism (3) maladie (3) ultrason (2) test (2) risque (2) système nerveux (2) analyse (2) famille (2)

Documents écrit par S. Lebon (15) | parle de S. Lebon (0)

Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
L. Pomar et al. (2023)
Treatment-emergent adverse events and antiseizure medication actual drug load.
T. Prétat et al.
Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.
L. Pomar et al.
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)
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
S. Lebon et al. (10 sept. 2021)
Exposure to alirocumab during the first trimester of pregnancy: A case report.
Y. Vuignier et al. (1 sept. 2021)
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
M.D. Stellingwerff et al.
Sultiame pharmacokinetic profile in plasma and erythrocytes after single oral doses: A pilot study in healthy volunteers.
K. Dao et al.
Clinical Reasoning: Rapidly progressive gait disorder and cranial nerves involvement in a 9-year-old boy.
A. Lipp et al. (21 janv. 2020)
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
F. Bastos et al. (13 janv. 2020)
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D. et al. (2016)
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
E.M. Reinthaler et al. (2014)
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
F. Zufferey et al. (2012)
Traitements des encéphalopathies épileptiques : revue et actualités
S. Lebon et al. (2009)
Epilepsie généralisée idiopathique ou épilepsie symptomatique? Similitudes et pièges
S. Lebon et al. (2009)