Associated Papers
A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family.
Fatima S et al.
Genetics and Molecular Biology, 2026
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
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