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Kabuki-Syndrome and Congenital Heart Disease—A Twenty-Year Institutional ExperienceAcademic Article Why?
Neonatal phenotype in Kabuki syndrome.Academic Article Why?
Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.Academic Article Why?
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.Academic Article Why?
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.Academic Article Why?
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.Academic Article Why?
MORRIS, SHAINEPerson Why?
Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement.Academic Article Why?
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.Academic Article Why?
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".Academic Article Why?
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.Academic Article Why?
Cappuccio, GerardaPerson Why?
LEHMAN , NORMPerson Why?
ANDERS, MARCPerson Why?
STANKIEWICZ, PAWELPerson Why?
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