Liao, Mingjuan

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

Sczakiel, H. L., Zhao, M., Wollert-Wulf, B., Danyel, M., Ehmke, N., Stoltenburg, C., Damseh, N., Al-Ashhab, M., Balci, T. B., Osmond, M., et al. (2023) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8

FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

Boschann, F., Sczakiel, H., Zhao, M., Danyel, M., Stoltenburg, C., Damseh, N., Ashhab, M., Balci, T., Engelen, K. V., Osmond, M., et al. (2022) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 8