Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
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H. Ropers | H. Christen | A. Grüters | C. Bönnemann | M. Schuelke | H. Biebermann | H. Krude | R. Ullmann | P. Crock | D. Rating | M. Griese | B. Plecko | C. Hübner | K. Brockmann | G. Kleinau | I. Müller | C. Dame | J. Hewitt | S. Ivarsson | K. Kapelari | J. Katchanov | I. Stoeva | A. Thorwarth | Sarah Schnittert-Hübener | P. Schrumpf | Sabine Jyrch | F. Dezegher | Grit Ebert | Anne Steininger | A. Thorwarth