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Publications by Rachel Schot

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

American Journal of Human Genetics

English

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome With Cranio-Facial and Skeletal Defects

American Journal of Human Genetics

English

Unbalanced Der(5)t(5;20) Translocation Associated With Megalencephaly, Perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

American Journal of Medical Genetics, Part A

English