Bardet-Biedl syndrome by Mujammel Haque, Md. Fakhrul Alam, Suraiya Begum, Shahana A. Rahman

Subjects: “…Bardet-Biedl syndrome…”
Get full text

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management by Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya

Subjects: “…Bardet–Biedl syndrome…”
Get full text

A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus by Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan

Subjects: “…Bardet biedl syndrome…”
Get full text

Bardet–Biedl syndrome: a case series by Omer Ali Mohamed Ahmed Elawad, Mumen Abdalazim Dafallah, Mohammed Mahgoub Mirghani Ahmed, Ahmed Abdalazim Dafallah Albashir, Sahar Mohammed Abbas Abdalla, Habiballa Hago Mohamed Yousif, Anwar Ali Elamin Daw Elbait, Moawia Elbalal Mohammed, Hassan Ismail Hassan Ali, Mohamed Mutasim Mohamed Ahmed, Najla Fouad Nassir Mohammed, Fadwa Hashim Mohamed Osman, Mussab Alnazeer Yousif Mohammed, Ejlal Ahmed Ebrahim Abu Shama

Subjects: “…Bardet–Biedl syndrome…”
Get full text

Bardet-Biedl Syndrome: A Rare Entity by Anuja Goit, Sonal Gupta, Shilpi Dutta

Subjects: “…bardet-biedl syndrome…”
Get full text

Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review by Aleksandra Sobieszczańska-Droździel, Karolina Kalicka-Żuk, Beata Bieniaś

Subjects: Get full text

Renal features of Bardet Biedl syndrome: A single center experience by Bahriye Atmış, Aysun Karabay-Bayazıt, Engin Melek, Atıl Bişgin, Ali Anarat

Subjects: “…Bardet Biedl syndrome…”
Get full text

Rare cause of pediatric obesity: Bardet - Biedl Syndrome by Mitul B Kalathia, Yogesh N Parikh, Parin N Parmar, Shyamal S Verma

Subjects: “…Bardet - Biedl syndrome…”
Get full text

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome by Michael Edwar, Usama Ragab, Ahmed Atia Kamel

Subjects: “…bardet-biedl syndrome…”
Get full text

Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome by Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-Ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Fazal-Ur-Rehman, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez

Subjects: Get full text

Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do by Caba L, Florea L, Braha EE, Lupu VV, Gorduza EV

Subjects: “…bardet-biedl syndrome…”
Get full text

Retinal neovascularization and peripheral tractional detachment in Bardet-Biedl Syndrome: Report of a case by Ramesh Venkatesh, Umesh Chandra Behera, Ramasamy Kim

Subjects: “…Bardet-Biedl syndrome…”
Get full text

A rare case of obesity. Can it be Bardet‐Biedl Syndrome? by Sandeep Shrestha, Nagendra Chaudhary

Subjects: “…Bardet‐Biedl syndrome…”
Get full text

Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet–Biedl Syndrome by Emanuela Marchese, Margherita Ruoppolo, Alessandra Perna, Giovambattista Capasso, Miriam Zacchia

Subjects: “…Bardet–Biedl syndrome…”
Get full text

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members by Ana Simičić Majce, Darija Tudor, Marko Simunovic, Marko Simunovic, Marko Todorovic, Mladenka Parlov, Bernarda Lozic, Bernarda Lozic, Mirna Saraga-Babić, Marijan Saraga, Marijan Saraga, Adela Arapović

Subjects: “…Bardet-Biedl syndrome…”
Get full text

Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre by Subbiah Sridhar, Sengottaiyan Palanivel, Jayachandran Senthilkumar, Kanagasabapathy Kavitha, Varadarajan Geethaanjali, Natarajan Vasanthiy, Chelliah Dharmaraj

Subjects: “…bardet–biedl syndrome…”
Get full text

Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly by Swiderski Ruth E, Agassandian Khristofor, Ross Jean L, Bugge Kevin, Cassell Martin D, Yeaman Charles

Subjects: “…Bardet-Biedl syndrome…”
Get full text

Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene by Guardiola G, Ramos F, Izquierdo N

Subjects: “…bardet-biedl syndrome…”
Get full text

Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review by Maria Nowak-Ciołek, Michał Ciołek, Agnieszka Tomaszewska, Friedhelm Hildebrandt, Thomas Kitzler, Konstantin Deutsch, Katharina Lemberg, Shirlee Shril, Maria Szczepańska, Agnieszka Zachurzok

Subjects: “…Bardet-Biedl syndrome…”
Get full text

Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study by Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli

Subjects: Get full text