Role of CAMK2D in neurodevelopment and associated conditions
Source
The American journal of human genetics - ISSN 0002-9297-111:2 (2024) p. 1-20
Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises : a case report
Source
Heliyon - ISSN 2405-8440-10:1 (2024) p. 1-5
From diagnosis to treatment in genetic epilepsies : implementation of precision medicine in real-world clinical practice
Source
European journal of paediatric neurology - ISSN 1090-3798-48 (2024) p. 46-60
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome
Source
European journal of medical genetics - ISSN 1769-7212-66:11 (2023) p. 1-4
Imerslund-Gräsbeck syndrome : a comprehensive review of reported cases
Source
Orphanet journal of rare diseases - ISSN 1750-1172-18:1 (2023) p. 1-10