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Items where Author is "Schiffmann, Raphael"

Items where Author is "Schiffmann, Raphael"

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haploinsufficiency intellectual disability MED13L
Number of items: 3.

haploinsufficiency

Asadollahi, Reza ORCID logoORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID logoORCID: 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 logoORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID logoORCID: 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 logoORCID: https://orcid.org/0000-0002-1497-0564, Zweier, Markus, Gogoll, Laura, Schiffmann, Raphael, Sticht, Heinrich ORCID logoORCID: 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)

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