Items where authors include "Park, S.-M."

Article

Elkhateeb, N. orcid.org/0000-0002-3076-3178, Crookes, R., Spiller, M. et al. (68 more authors) (2025) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine, 27 (3). 101348. ISSN 1098-3600

Park, S.-M., Goodwin, S.P. and Kim, S.S. (2020) Making top-heavy IMFs from canonical IMFs near the galactic centre. Monthly Notices of the Royal Astronomical Society, 494 (1). pp. 325-331. ISSN 0035-8711

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

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836