Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Article in European Journal of Medical Research (July 2024)
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Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Article in BMC Medical Genomics (September 2023)
Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome
Article in Frontiers in Genetics (September 2023)