Results 111 to 120 of about 6,126 (165)

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome. [PDF]

Orphanet J Rare Dis
Cetiner M, Finkelberg I, Schiepek F, Pape L, Hirtz R, Büscher AK.   +5 more
europepmc   +1 more source

Clinical burden of hyperphagia, obesity and health outcomes in paediatric individuals with Bardet-Biedl syndrome: A CRIBBS data analysis. [PDF]

Pediatr Obes
Pomeroy J, Okorie U, Richardson JG, Faucher A, Ionescu-Ittu R, Vekeman F, Huber C, Haws RM.   +7 more
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

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

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

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