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Human Mutation|April 21, 2005
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenitaNils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, et al.
Endocrinologia, Diabetes Y Nutricion|August 22, 2018
Adaptation and cross-cultural validation of the Spanish version of the Thyroid-Related Quality-of-Life Patient-Reported Outcome questionnaireMauro Boronat, Ana González-Lleó, Carlos Rodríguez-Pérez, et al.
Atherosclerosis|September 14, 2019
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9Rosa M Sánchez-Hernández, Maria Donata Di Taranto, Asier Benito-Vicente, et al.
Cardiovascular Diabetology|August 7, 2025
Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional studyAna María González-Lleó, Yeray Brito-Casillas, Virginia Martín-Santana, et al.
The Journal of Clinical Endocrinology and Metabolism|August 5, 2016
A Probabilistic Model for Cushing's Syndrome Screening in At-Risk Populations: A Prospective Multicenter StudyAntonio León-Justel, Ainara Madrazo-Atutxa, Ana I Alvarez-Rios, et al.
Frontiers in Psychology|June 17, 2017
ViDa1: The Development and Validation of a New Questionnaire for Measuring Health-Related Quality of Life in Patients with Type 1 DiabetesDácil Alvarado-Martel, M Angeles Ruiz Fernández, Maribel Cuadrado Vigaray, et al.
European Journal of Endocrinology|April 27, 2026
Prevalence of germline variants in USP8, USP48, CABLES1 and PAM in patients with pituitary adenomasIdoia Martinez de Lapiscina, Candela Baquero, Alicia Santos, et al.
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