Associated Papers
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method.
Yang SH et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.
Qin L et al.
Scientific Reports, 2018
30143665 (PubMed )
Supplement: 41598_2018_30940_MOESM1_ESM.pdf
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.
Kominami A et al.
Ophthalmic Genetics, 2018
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