Associated Papers
Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo-Optic Dysplasia in a Small-for-Gestational-Age Infant-A Case Report.
Tan YRL et al.
Clinical Case Reports, 2026
Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein.
Kim A et al.
Brain : a Journal of Neurology, 2020
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease.
Aflaki E et al.
Neurobiology of Disease, 2020
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 synthesis.
Roessler E et al.
Human Mutation, 2009
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