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List of works by Constance T R M Schrander-Stumpel

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

scientific article

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

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

scientific article published on 19 September 2011

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

scientific article

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