Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Heiko Krude, Sarah Schnittert-Hübener et al.|Journal of Medical Genetics|2014Cited by 114
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidismPetra Ambrugger, Annette Grüters, Claudia Leitner et al.|European Journal of Endocrinology|2001Cited by 53