Associated Papers
Expanding the mutational spectrum of congenital microcephaly in Pakistani families.
Farooq S et al.
Frontiers in Genetics, 2025
41555927 (PubMed )
Supplement: Table1.xlsx › Family_3_ASPM
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
Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.
Casey JP et al.
European Journal of Human Genetics : Ejhg, 2015
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