Associated Papers
Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.
Hu HY et al.
Journal of Cellular and Molecular Medicine, 2021
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
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
Tallila J et al.
Human Mutation, 2009
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB et al.
Human Genetics, 2007
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