Associated Papers
Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.
Suárez-González J et al.
Bmc Medical Genomics, 2021
Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance.
Jeziorny K et al.
Genes, 2020
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Griswold AJ et al.
Molecular Autism, 2015
26185613 (PubMed )
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