Associated Papers
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Algahtani H et al.
Seizure, 2019
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
30508070 (PubMed )
Supplement: awy290_supplementary_table_s1.pdf
Ovarian cancer cell line panel (OCCP): clinical importance of in vitro morphological subtypes.
Beaufort CM et al.
Plos One, 2014
25230021 (PubMed )
Supplement: pone.0103988.s007.xlsx › paper_mutation_table
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.
Bosoi CM et al.
Human Mutation, 2011
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