Associated Papers
Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies.
Liu Y et al.
Frontiers in Genetics, 2021
34675960 (PubMed )
Supplement: Table1.XLSX › Sheet1
Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
van Wijngaarden AL et al.
Journal of Medical Genetics, 2020
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH et al.
Bmc Medical Genetics, 2020
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M et al.
Human Mutation, 2010
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
Doherty D et al.
Journal of Medical Genetics, 2010
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