haploinsufficiency

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID: https://orcid.org/0000-0001-5644-045X, Steindl, Katharina and Rauch, Anita (2017) Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60 (9). pp. 451-464. ISSN 1769-7212 (doi:10.1016/j.ejmg.2017.06.004)

intellectual disability

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID: https://orcid.org/0000-0001-5644-045X, Steindl, Katharina and Rauch, Anita (2017) Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60 (9). pp. 451-464. ISSN 1769-7212 (doi:10.1016/j.ejmg.2017.06.004)

MED13L

Asadollahi, Reza ORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID: https://orcid.org/0000-0001-5644-045X, Steindl, Katharina and Rauch, Anita (2017) Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60 (9). pp. 451-464. ISSN 1769-7212 (doi:10.1016/j.ejmg.2017.06.004)