Items where authors include "Platzer, K."

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

Saffari, A., Lau, T. orcid.org/0000-0003-0514-1729, Tajsharghi, H. et al. (98 more authors) (2023) The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain, 146 (8). pp. 3273-3288. ISSN 0006-8950

Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825

Rosenhahn, E., O’Brien, T.J., Zaki, M.S. et al. (44 more authors) (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics, 109 (8). pp. 1421-1435. ISSN 0002-9297