Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM2_ESM.xlsx › Sheet2
Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.
Aynekin B et al.
Neurogenetics, 2025
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B et al.
Epilepsia Open, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Al-Bakheet A et al.
Clinical Genetics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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