Peters, Sophia

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

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A novel de novo mutation in the thyroid hormone receptor-beta gene

Chatzitomaris, A., Köditz, R., Höppner, W., Peters, S., Klein, H., & Dietrich, J. (2015) · Experimental and Clinical Endocrinology & Diabetes

Thyroid Disorders and TreatmentsGenomics and Rare Diseases

Cited by 4