Results 211 to 220 of about 2,432,528 (230)

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

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

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

N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model. [PDF]

J Exp Neurol
Rankin TJ, Mayer S, Laird JG, Lobeck B, Kalmanek E, Drack AV.   +5 more
europepmc   +1 more source

Unveiling the Spectrum of Otorhinolaryngological Manifestations in Siblings With Bardet-Biedl Syndrome: A Report of Two Cases. [PDF]

Cureus
Padmanabhan K, Ashish S, Vijayan N, Hemanthkumar SM.   +3 more
europepmc   +1 more source