Showing results 13 to 15 of 15
Issue Date | Title | Journal Title |
---|---|---|
2019 | Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome | Ophthalmic Genetics |
2021 | TUBB3 M323V Syndrome Presents with Infantile Nystagmus | GENES |
2020 | Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma | HAEMATOLOGICA |