Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders.
Sjaarda CP et al.
Cold Spring Harbor Molecular Case Studies, 2020
Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1.
Picker-Minh S et al.
Orphanet Journal of Rare Diseases, 2014
New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.
Morris-Rosendahl DJ et al.
European Journal of Human Genetics : Ejhg, 2010
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.
Aligianis IA et al.
Nature Genetics, 2005
Select a paper to view details