Results 171 to 180 of about 2,432,528 (230)

Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome.

, 2021
Mohammad Dehani, Davood Zare-Abdollahi, Ata Bushehri, Azadeh Dehghani, Jalil Effati, Seyed Ali Mohammad Miratashi, Hamid Reza Khorram Khorshid   +6 more
openalex   +1 more source

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome

, 2008
Jonathan L. Tobin, Matt di Franco, Erica R. Eichers, Helen May‐Simera, M Acuña García, Jiong Yan, Robyn Quinlan, Monica J. Justice, Raoul C. M. Hennekam, James Briscoe, Masazumi Tada, Roberto Mayor, Alan J. Burns, James R. Lupski, Peter Hammond, Philip L. Beales   +15 more
openalex   +2 more sources

A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity [PDF]

, 2007
Roger E. Davis, Ruth E. Swiderski, Kamal Rahmouni, Darryl Nishimura, Robert F. Mullins, Khristofor Agassandian, Alisdair R. Philp, Charles Searby, Michael Andrews, Stewart Thompson, Christopher J. Berry, Daniel R. Thedens, Baoli Yang, Robert M. Weiss, Martin D. Cassell, Edwin M. Stone, Val C. Sheffield   +16 more
openalex   +1 more source

Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet–Biedl syndrome

, 2021
Chao Xie, Julien C. Habif, Cedric R. Uytingco, Kirill Ukhanov, Lian Zhang, Carlos de Celis, Val C. Sheffield, Jeffrey R. Martens   +7 more
openalex   +2 more sources

Bardet-Biedl Syndrome: Report of a Classical Case from North India. [PDF]

Ann Afr Med
Kapoor D, Chaudhary SC, Khandelwal A, Pancholi C, Sinha S, Pal T.   +5 more
europepmc   +1 more source

Bardet-Biedl syndrome: The longer we miss, the worse is the outcome.

, 2022
Michael Edwar, Usama Ragab, Ahmed Atia Kamel   +2 more
openalex   +2 more sources

Retinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort. [PDF]

Cureus
Vázquez-Folch SJ, Jiménez-Berríos GA, Izquierdo N, Garcia Rodriguez O.   +3 more
europepmc   +1 more source

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. [PDF]

, 1997
Philip L. Beales, Alison Warner, G. A. Hitman, Rajesh V. Thakker, Frances Flinter   +4 more
openalex   +1 more source

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

Bardet-Biedl Syndrome in Four Siblings: Clinical and Genetic Insights From a Rare Familial Cluster. [PDF]

AACE Endocrinol Diabetes
Jena D, Pattanaik S, Sahoo SK, Vivek MV, Mishra S, Meher RK, Palai S, Mishra S.   +7 more
europepmc   +1 more source