Items where authors include "Prapa, M."

Article

Copeland, H., Low, K.J., Wynn, S.L. et al. (89 more authors) (2024) Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders. Genetics in Medicine Open, 2. 101864. ISSN 2949-7744

Prapa, M., Lago-Docampo, M., Swietlik, E.M. et al. (37 more authors) (2022) First genotype-phenotype study in TBX4 syndrome : gain-of-function mutations causative for lung disease. American Journal of Respiratory and Critical Care Medicine, 206 (12). pp. 1522-1533. ISSN 1073-449X

Truelove, A. orcid.org/0000-0003-2941-2052, Mulay, A. orcid.org/0000-0002-5340-5867, Prapa, M. et al. (7 more authors) (2019) Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. American Journal of Medical Genetics Part A, 179 (7). pp. 1330-1337. ISSN 1552-4825

Preprint

Copeland, H., Low, K.J., Wynn, S. et al. (89 more authors) (2023) Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders. [Preprint] (Submitted)