Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 1190 publications

Relationship between high expression of circular RNA Bardet-Biedl syndrome 9 and low expression of circRNA catenin beta 1 in peripheral blood and weaning failure of mechanical ventilation in patients with acute exacerbation of chronic obstructive pulmonary disease

Relationship between high expression of circular RNA Bardet-Biedl syndrome 9 and low expression of circRNA catenin beta 1 in peripheral blood and weaning failure of mechanical ventilation in patients with acute exacerbation of chronic obstructive pulmonary disease

Journal: Zhonghua wei zhong bing ji jiu yi xue
Published: December 03, 2025

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes.

Multi-matrix metabolomics in rare monogenic diabetes syndromes: Analysis of oral fluids and serum in carriers of pathogenic variants in the ALMS1/BBS genes.

Journal: Computational and structural biotechnology journal
Published: November 28, 2025

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.

Splice-switching antisense oligonucleotides correct cryptic exon inclusion and restore SDCCAG8 protein in Bardet-Biedl Syndrome.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome.

Engaging patient-led rare disease organizations to advance research - through the lens of Bardet-Biedl syndrome.

Journal: Journal of cell science
Published: October 27, 2025

N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model.

N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model.

Journal: Journal of experimental neurology
Published: September 26, 2025

Primary cilia in neural development and disease.

Primary cilia in neural development and disease.

Journal: Neurobiology of disease
Published: September 25, 2025

Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.

Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.

Journal: The Journal of international medical research
Published: September 24, 2025

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members.

Journal: Microorganisms
Published: September 18, 2025

Obesity and Kidney Disease: A Focus on Ciliopathies.

Obesity and Kidney Disease: A Focus on Ciliopathies.

Journal: Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
Published: September 09, 2025

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome.

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome.

Journal: Clinical case reports
Published: August 31, 2025

Development of Dysplastic Nevi in a Child with LEPR Deficiency Treated with Setmelanotide.

Development of Dysplastic Nevi in a Child with LEPR Deficiency Treated with Setmelanotide.

Journal: Journal of clinical research in pediatric endocrinology
Published: August 21, 2025

Resolution of chronic idiopathic urticaria with setmelanotide in a patient with Bardet-Biedl Syndrome: A case report.

Resolution of chronic idiopathic urticaria with setmelanotide in a patient with Bardet-Biedl Syndrome: A case report.

Journal: Obesity pillars
Published: August 21, 2025
Showing 1-12 of 1,190

Last Updated: 01/07/2026