Items where authors include "Baple, E."

Article

Best, S., Yu, J., Lord, J. orcid.org/0000-0002-0539-9343 et al. (16 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59. pp. 1151-1164. ISSN 0022-2593

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

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.