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American Journal of Medical Genetics. Part A|September 27, 2006
SIX3 mutations with holoprosencephalyLucilene Arilho Ribeiro, Kenia B El-Jaick, Maximilian Muenke, et al.
Molecular Medicine Reports|April 12, 2011
No association of the polyhistidine tract polymorphism of the ZIC2 gene with neural tube defects in a South American (ECLAMC) populationMarcelo A Costa-Lima, Heloisa N M Meneses, Kenia B El-Jaick, et al.
Human Molecular Genetics|September 16, 2008
Mutations in the human SIX3 gene in holoprosencephaly are loss of functionSabina Domené, Erich Roessler, Kenia B El-Jaick, et al.
Molecular Genetics and Metabolism|September 12, 2006
Functional analysis of mutations in TGIF associated with holoprosencephalyKenia B El-Jaick, Shannon E Powers, Laurent Bartholin, et al.
Human Mutation|July 16, 2009
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisErich Roessler, Kenia B El-Jaick, Christèle Dubourg, et al.
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