• A 5' UTR Mutation Contributes to Down-Regulation of <em>Bbs7</em> in the Berlin Fat Mouse
• A Case of Laurence Moon Bardet Biedl Syndrome
• A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts
• A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice
• A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans
• Adipose tissue function and insulin sensitivity in syndromic obesity of Bardet-Biedl syndrome
• Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data
• Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene
• Bardet-Biedl Syndrome Overview
• Bardet-Biedl syndrome with unique manifestations of congenital giant nevi and refractory anemia: a case report from Palestine
• Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
• Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
• Clinical features of a novel compound heterozygous genotype of the <em>BBS2</em> gene: a case report
• Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees
• Early development and adaptive functioning in children with Bardet-Biedl syndrome
• Fetal ascites in third trimester as novel prenatal finding in Bardet-Biedl syndrome and subsequent unaffected live birth assisted by preimplantation genetic diagnosis
• Fetal renal cystic disease and post-natal follow up-a single center experience
• Genetic profile of syndromic retinitis pigmentosa in Portugal
• Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome
• Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome
• Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
• Nonsyndromic Retinitis Pigmentosa Overview
• Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report
• Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial
• POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function
• Prevalence of genetic causes of obesity in clinical practice
• Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
• Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island
• Refractive errors in patients with Bardet Biedl syndrome
• Restoring retinal polyunsaturated fatty acid balance and retina function by targeting ceramide in AdipoR1-deficient mice
• Rosai Dorfman Disease: A Rare Case Report
• Serum Ghrelin and Glucagon-like Peptide 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes
• Serum Ghrelin and Glukagon-like Peptid 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes
• Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
• Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome
• Syndromic ciliopathy: a taiwanese single-center study
• Syndromic Retinitis Pigmentosa: A 15-Patient Study
• The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers
• The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia