Results 31 to 40 of about 16,762 (226)
Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source
Els casos clínics en català: vitalitat i propostes
Treballs de Sociolingüística Catalana, 2021 Els professionals de la salut disposen d’un gènere per a narrar les experiències clíniques dels seus pacients, amb finalitats didàctiques i de recerca. És el cas clínic (CC), un tipus de relat altament especialitzat i amb unes característiques retòriques
Adéla Ko?átková
doaj
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
INNOVACIONS METODOLOGIQUES: L’ ÚS D’ INSTAGRAM COM A EINA INVESTIGATIVA EN SALUT JUVENIL.
Mètode Science Studies Journal: Annual Review, 2016 La comunicació és clau a l’àmbit de la salut, i incrementa la seva importància amb l’era digital. Internet i els nous mass media esdevenen eines bàsiques de comunicació, essent inclús imprescindibles quan parlem del jovent.
Natàlia Carceller-Maicas
doaj +1 more source
BMC Health Services Research, 2018 Following publication of the original article [1], the authors reported a correction in affiliation of Maria Luisa Vázquez, who is affiliated with Health Policy and Health Services Research Group, which is number 1 instead of being affiliated with Grup ...
Sina Waibel +3 more
doaj +1 more source
Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome
Annals of Neurology, EarlyView.Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca +24 more
wiley +1 more source
Impaired Flow and Physiology in Coronaries With Anomalous Origin From the Opposite Sinus of Valsalva
Catheterization and Cardiovascular Interventions, EarlyView.ABSTRACT Background Anomalous Aortic Origin of a Coronary Artery (AAOCA) high‐risk anatomical features (intramural segment, acute take‐off angle, slit‐like ostium) cause coronary stenosis leading to myocardial infarction. How these features alter coronary physiology remains unclear.
Mauro Lo Rito +17 more
wiley +1 more source
Implementation of guideline‐recommended medical therapy for patients with heart failure in Europe
ESC Heart Failure, Volume 12, Issue 2, Page 790-798, April 2025.Abstract Physicians' adherence to guideline‐recommended heart failure (HF) treatment remains suboptimal, especially regarding the target doses. In particular, there is evidence that non‐cardiologists are less compliant with HF guideline recommendations. This is likely to have a detrimental impact on patients' survival, readmissions and quality of life.
Maurizio Volterrani +11 more
wiley +1 more source
Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey
Epilepsia Open, EarlyView.Abstract Objective Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the ...
Sébile Tchaicha +11 more
wiley +1 more source
Necessitats educatives per promoure la salut afectiva i sexual en joves en risc social
Revista d'Innovació i Recerca en Educació, 2014 L’educació afectiva y sexual dels i les joves en situació de risc social és un element essencial per a la seva salut. L’educació en aquesta àrea requereix uns plantejaments rigorosos que es basin en les necessitats educatives i diferencials d’aquest col ...
M.Àngels Balsells +4 more
doaj +1 more source