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List of works by Paulien A Terhal

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

scientific article

Further delineation of the GDF6 related multiple synostoses syndrome.

scientific article published on 12 November 2017

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome

scientific article published in May 2018

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