Results 151 to 160 of about 11,428 (200)

First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review. [PDF]

Mol Syndromol
Güleç A, Gerik-Celebi HB.
europepmc   +1 more source

A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier. [PDF]

AACE Clin Case Rep
Ahmad Mian D, Shah ZA, Ikram MT, Fatima K, Hamid H, Ahmad H.   +5 more
europepmc   +1 more source

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway. [PDF]

BMJ Open
Rustad CF, Bragadottir R, Nordgarden H, Miller JU, Weedon-Fekjær MS, Arfa S, Åsten PM, Tveten K, von der Lippe C, Sigurdardottir S.   +9 more
europepmc   +1 more source

Transcriptome-guided GLP-1 receptor therapy rescues metabolic and behavioral disruptions in a Bardet-Biedl syndrome mouse model. [PDF]

J Clin Invest
Singh A, Haq N, Yang M, Luckey S, Mansouri S, Campbell-Thompson M, Jin L, Christou-Savina S, de Lartigue G.   +8 more
europepmc   +1 more source

Homozygous Pathogenic Variant in BBS9 Gene: A Detailed Case Study of Bardet-Biedl Syndrome. [PDF]

Cureus
Al-Mat'hammi AA, Alzahrani SA, Alsefry FS, Ghurab S, Alghamdi M.   +4 more
europepmc   +1 more source

Homozygous Frameshift Mutation in the BBS10 Gene Causing Bardet-Biedl Syndrome with Rod-Cone Dystrophy: A Case Report. [PDF]

Korean J Ophthalmol
Heo J, Jeong YH, Park SW, Byon I, Kwon HJ.   +4 more
europepmc   +1 more source

Pharmaceutical inhibition of the Chk2 kinase mitigates cone photoreceptor degeneration in an iPSC model of Bardet-Biedl syndrome. [PDF]

iScience
Barabino A, Katbe A, Hanna R, Freedman BS, Bernier G.   +4 more
europepmc   +1 more source

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. [PDF]

Int J Med Sci
Li MH, Chen IC, Yang HW, Yen HC, Huang YC, Hsu CC, Chen YM, Ke YY.   +7 more
europepmc   +1 more source