Research graph
References from Bardet–Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1038/ejhg.2012.115
10.1038/ejhg.2012.115 · External reference
Unresolved reference
2003 · External reference
10.1002/ajmg.a.30406
10.1002/ajmg.a.30406 · External reference
A Novel Founder BBS1 Mutation Explains a Unique High Prevalence of Bardet‐Biedl Syndrome in The Faroe Islands
10.1136/bjo.2007.131110 · 2009 · External reference
10.1017/s0021932098002612
10.1017/s0021932098002612 · External reference
Exome Sequence Analysis in Consanguineous Pakistani Families Inheriting Bardet‐Biedl Syndrome Determined Founder Effect of Mutation c.299delC (p.Ser100Leufs*24) in BBS9 Gene
10.1002/mgg3.834 · 2019 · External reference
Bardet‐Biedl Syndrome in Two Sibling Pairs: A Case Series
10.1186/s13256-026-05917-z · 2026 · External reference
10.1093/hmg/10.20.2293
10.1093/hmg/10.20.2293 · External reference
10.1038/s41431-024-01634-7
10.1038/s41431-024-01634-7 · External reference
10.1136/jmg.36.6.437
10.1136/jmg.36.6.437 · External reference
10.1681/asn.2015091029
10.1681/asn.2015091029 · External reference
Recurrence Risks for Bardet‐Biedl Syndrome: Implications of Locus Heterogeneity
10.1097/gim.0b013e3181f07572 · 2010 · External reference
Bardet‐Biedl Syndrome: A Rare Cause of End‐Stage Renal Disease
10.4103/2229-516x.149254 · 2015 · External reference
Cardiac Abnormalities in Bardet‐Biedl Syndrome: Echocardiographic Findings in 22 Patients
10.1002/ajmg.1320520208 · 1994 · External reference
Laurence‐Moon‐Bardet‐Biedl Syndrome: A Case Report
2019 · External reference
A Case Report of Bardet Biedl Syndrome in a Patient From Pakistan Who Presented With Osmotic Symptoms Associated With Diabetes Mellitus
10.5195/ijms.2024.1932 · 2024 · External reference
A Beacon of Hope: Confronting Bardet‐Biedl Syndrome in Pakistan's Health Care Frontier
10.1016/j.aace.2024.12.006 · 2025 · External reference
A Case Report of Bardet‐Biedl Syndrome: Emphasizing Genetic Complexity and Multidisciplinary Management
2025 · External reference
Three Stories of Bardet‐Biedl Syndrome in Islamabad: A Case Series
2026 · External reference
