7 results on '"Lu, Chao"'
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2. Novel compound heterozygous variants in ARL13B lead to Joubert syndrome.
3. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome
4. Whole Exome Sequencing Identified Novel ARMC9 Variations in Two Cases With Joubert Syndrome.
5. Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
6. Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome.
7. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
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