Up a level |
Number of items: 1.
Reuter, Miriam S., Zech, Michael, Hempel, Maja, Altmueller, Janine, Heung, Tracy, Poelsler, Laura, Santer, Rene, Thiele, Holger, Trost, Brett ORCID: 0000-0003-4863-7273, Kubisch, Christian ORCID: 0000-0003-4220-0978, Scherer, Stephen W. ORCID: 0000-0002-8326-1999, Rudnik-Schoneborn, Sabine, Bassett, Anne S. and Lessel, Davor ORCID: 0000-0003-4496-244X (2022). Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies. Eur. J. Hum. Genet., 30 (5). S. 611 - 619. LONDON: SPRINGERNATURE. ISSN 1476-5438