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(1 - 2 of 2)
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Blok, L.S.; Hiatt, S.M.; Bowling, K.M.; Prokop, J.W.; Engel, K.L.; Cochran, J.N.; ... ; DDD Study 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Article / Letter to editor
open access
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Klaassens, M.; Morrogh, D.; Rosser, E.M.; Jaffer, F.; Vreeburg, M.; Bok, L.A.; ... ; Scott, R.H. 2015
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
Article / Letter to editor
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