Items where authors include "Pinz, H."

Article

Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297

Zarate, Y.A., Smith-Hicks, C.L., Greene, C. et al. (55 more authors) (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics Part A, 176 (4). pp. 925-935. ISSN 1552-4825