1. Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
    Tianchang Tao et al, 2023, European Journal of Ophthalmology CrossRef
  2. Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members
    Ana Simičić Majce et al, 2023, Frontiers in Pediatrics CrossRef
  3. Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
    Sheraz Khan et al, 2023, American Journal of Medical Genetics Part A CrossRef
  4. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook
    Andrea Melluso et al, 2023, Therapeutics and Clinical Risk Management CrossRef
  5. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
    Irene Perea-Romero et al, 2022, npj Genomic Medicine CrossRef
  6. A Rare Case Report of Bardet–Biedl Syndrome: A Syndrome of Pentad Symptoms
    Syed Azmal Mahmood et al, 2024, Bangladesh Journal of Endocrinology and Metabolism CrossRef