Results 151 to 160 of about 2,447,712 (252)

Motor-Dominant Peripheral Neuropathy, Polydactyly, Mental Retardation, Kidney Failure, Diabetes Mellitus, and Developmental Delay in the Absence of Retinal Dystrophy: Spectrum of Bardet-Biedl Syndrome (BBS) [PDF]

, 2019
Hiroyuki Morita
openalex   +1 more source

Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series [PDF]

, 2009
Cristina Maria Mihai, Doina Catrinoiu, Marius Toringhibel, Ramona Mihaela Stoicescu, Negreanu-Pirjol Ticuta, Hancu Anca, CH Alström, T Hearn, F Hildebrandt, JR Davenport, JL Badano, H Shiratori, Inés Ibañez-Tallon, DN Wheatley, L Eley, J Pan, V Singla, WF Marshall, JT Eggenschwiler, HA Praetorius, SM Nauli, M Fliegauf, JS Andersen, SJ Ansley, M Kyttala, L Romio, M Händel, M Hamon, I Brailov, T Arsov, M Boschetti, JD Marshall, JD Marshall, SL Jones, HC Hoeck, P Vestergaard, AT Soliman, Ross C Cuneo, BM Biller, DM Hoffman, E Ghigo, JL Clasey, A Iranmanesh, JD Veldhuis, TS Tai, P Maffei, B McElhinney Doff   +46 more
core   +1 more source

Bardet-Biedl Syndrome 4 in Early Diagnosis and Prognosis of Breast Cancer [PDF]

, 2021
H. Zhang, Baojun Suo, Xue Sun, Ying-Xuan Sun, Hong Qiao   +4 more
openalex   +1 more source

Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet–Biedl Syndrome

, 2021
L Dormegny, R Velizarova, Schroder CM, U Kilic-Huck, H Comtet, H Dollfus, P Bourgin, E Ruppert   +7 more
openalex   +1 more source

Bardet-Biedl Syndrome in Three Cases

, 1991
Can Boğa, Yalçı́n Kepekçi, Cüneyt Karaaslan, Hüseyin Güneyisi, Mustafa Demirtaş, Necdet A. Bekir   +5 more
openalex   +2 more sources

Additional file 4: Figure S2. of Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alstrรถm Syndrome provides mechanistic insight into shared and divergent phenotypes

, 2016
Timothy L. Hostelley, Sukanya Lodh, Norann A. Zaghloul   +2 more
openalex   +1 more source

Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet–Biedl syndrome [PDF]

, 2014
Anna Praidou, Richard Hagan, Harish Nayak, Arvind Chandna   +3 more
openalex   +1 more source

Decision letter for "Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74"

, 2021

openalex   +1 more source

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature [PDF]

, 2023
Saif A Saif, Suzan S Alzaidi, Abdullah F Alghamdi, Amal A Alharazi, Omar S Almansouri, Rehab Fadag   +5 more
openalex   +1 more source

The Bardet–Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export

Proceedings of the National Academy of Sciences of the United States of America, 2018
Peiwei Liu, K. Lechtreck
semanticscholar   +1 more source