Results 101 to 110 of about 2,857 (146)

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene [PDF]

, 2000
Craen, Margarita, De Paepe, Anne, Leroy, Juliaan, Mortier, Geert, Nuytinck, Lieve, Renard, Jean-Pierre   +5 more
core   +3 more sources

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]

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

Pediatric myocarditis: a sentinel of non-cardiac chronic diseases? [PDF]

, 2017
Balla, György, Berkes, Andrea, Felszeghy, Enikő Noémi, Korponay-Szabó, Ilma, Kovács, Tamás, Mogyorósy, Gábor, Tóth, László   +6 more
core   +1 more source

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]

J Med Genet, 2023
Bea-Mascato B, Valverde D.
europepmc   +1 more source

Codevelopment of a complex intervention to reduce inequalities in paediatric diabetes secondary care outcomes for children with type 1 diabetes from underserved groups

BMJ Open
Objectives To codevelop (with children and young people with diabetes (CYPD)) an intervention to improve diabetes control and future health outcomes of CYPD from ‘underserved’ groups, to reduce treatment outcome inequalities between different ...
, Ian Litchfield, Timothy Barrett, Sheila Greenfield, Sabi Redwood, S Uday, T Barrett, Aidan Searle, J Wheeler, Julian P H Shield, T Moore, P Sundaram, F Campbell, S Redwood, S Greenfield, P Brocklehurst, K Khunti, J Shield, V Puthi, P Sachdev, R Willemsen, C Austin, M Ford-Adams, P Narendran, N Ives, Jessica R Wheeler, Kerry Leeson-Beevers, R Kandiyali, K Leeson-Beevers, I Litchfield, A Searle, S Tearne   +31 more
doaj   +1 more source

The Search [PDF]

, 2010
https://mouseion.jax.org/search/1006/thumbnail ...
The Jackson Laboratory
core   +1 more source

Alström Syndrome: A Rare Cause of Severe Insulin Resistance. [PDF]

JCEM Case Rep, 2023
Radi S, Binmahfooz S, Nawar S, Malaikah H.   +3 more
europepmc   +1 more source

A Rare Cause of Infantile-Onset Cardiomyopathy With Ocular Manifestations: Alström Syndrome. [PDF]

Cureus, 2022
Snobar R, Mohamed M, AlKamali A, Gupta B.   +3 more
europepmc   +1 more source

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +1 more source