Associated Papers
Whole genome sequencing and rare variant analysis in essential tremor families.
Odgerel Z et al.
Plos One, 2019
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
Variants in TSPYL1 are not associated with sudden infant death syndrome in a cohort of deceased infants from Switzerland.
Schubert S et al.
Molecular and Cellular Probes, 2015
Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
Javaher P et al.
Fertility and Sterility, 2012
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