Recherche
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Evaluation of the template letter regarding the disclosure of genetic information within the family in France
(Journal of Community Genetics. vol. 10, n° 4, pp. 489-, 2019-10)Article de revue -
Severe Thoracic and Spinal Bone Abnormalities in neurofibromatosis type 1
(European Journal of Medical Genetics. vol. 63, n° 4, pp. 103815, 2020)Article de revue -
A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages
(Research in Developmental Disabilities. vol. 116, pp. 104029, 2021-07-13)Article de revue -
Adult-Onset Diagnosis Of Urea Cycle Disorders: Results Of A French Cohort Of 71 Patients
(Journal of Inherited Metabolic Disease, 2021-05-20)Article de revue -
Euglycemic ketoacidosis induced by therapeutic fasting in a non-diabetic patient
(Nutrition. vol. 72, pp. 110668, 2020)Article de revue