Results 191 to 200 of about 2,447,712 (252)

Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function [PDF]

, 2007
Perciliz L. Tan, Travis P. Barr, Peter N. Inglis, Norimasa Mitsuma, Susan M. Huang, Miguel A. García-González, Brian A. Bradley, Stephanie Coforio, Phillip J. Albrecht, Terry Watnick, Gregory G. Germino, Philip L. Beales, Michael J. Caterina, Michel R. Leroux, Frank L. Rice, Nicholas Katsanis   +15 more
openalex   +1 more source

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 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

Bardet-Biedl syndrome in a Syrian adolescent: a rare case report. [PDF]

Ann Med Surg (Lond)
Alabed A, Alhallak S, Dakkak T, Alhaj Ali AJ, Beiruty N, Alwannous K.   +5 more
europepmc   +1 more source

BARDET — BIEDL SYNDROME WITH CONGENITAL KIDNEY MALFORMATION IN A 14-YEAR-OLD GIRL

, 2019
A. V. Burlutskaya, Natalia V. Savelyeva
openalex   +2 more sources

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway. [PDF]

Orphanet J Rare Dis
Rustad CF, Bragadottir R, Tveten K, Nordgarden H, Miller JU, Åsten PM, Vasconcelos G, Kulseth MA, Holla ØL, Olsen HG, von der Lippe C, Sigurdardottir S.   +11 more
europepmc   +1 more source

Bardet-Biedl syndrome with vulva carcinoma presented with acute renal failure: a case report.

, 2016
Fateme Sari, A M Sarikaya, Dinç Süren, Mehmet Fuat Eren, Burcu YILMAZ   +4 more
openalex  

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome. [PDF]

Cureus
Murati Calderon RA, Vázquez-Folch SJ, Izquierdo N.   +2 more
europepmc   +1 more source

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome. [PDF]

Front Endocrinol (Lausanne)
Kuk M, Richards J, Ross RA.
europepmc   +1 more source

Bardet–Biedl syndrome

European Journal of Human Genetics, 2012
E. Forsythe, P. Beales
semanticscholar   +1 more source