Items where authors include "De Franco, E."

Article

Rautengarten, C., Quarrell, O.W., Stals, K. et al. (9 more authors) (2019) A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. Human Molecular Genetics, 28 (21). pp. 3543-3551. ISSN 0964-6906

Dimitri, P., De Franco, E., Habeb, A.M. et al. (8 more authors) (2016) An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3 ). American Journal of Medical Genetics Part A. ISSN 1552-4825

Proceedings Paper

Quarrell, O.W., Rautengarten, C., Stals, K. et al. (9 more authors) (2019) Report of a novel variant causing a schneckenbecken-like dysplasia. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1298-1299.