Results 181 to 190 of about 56,471 (208)

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB. [PDF]

Sci Rep
Fernández-Caballero L, Blanco-Kelly F, Swafiri ST, Martín-Mérida MI, Quinodoz M, Ullah M, Carreño E, Martin-Gutierrez MP, García-Sandoval B, Minguez P, Rivolta C, Corton M, Ayuso C.   +12 more
europepmc   +1 more source

Author Correction: Metabolic reprogramming by Acly inhibition using SB-204990 alters glucoregulation and modulates molecular mechanisms associated with aging. [PDF]

Commun Biol
Sola-García A, Cáliz-Molina MÁ, Espadas I, Petr M, Panadero-Morón C, González-Morán D, Martín-Vázquez ME, Narbona-Pérez ÁJ, López-Noriega L, Martínez-Corrales G, López-Fernández-Sobrino R, Castillo-Peña A, Carmona-Marin LM, Martínez-Force E, Yanes O, Vinaixa M, López-López D, Reyes JC, Dopazo J, Martín F, Gauthier BR, Scheibye-Knudsen M, Capilla-González V, Martín-Montalvo A.   +23 more
europepmc   +1 more source

Association of germline variants in the ZFX gene with primary hyperparathyroidism. [PDF]

PLoS One
Aranaga-Decori AC, González P, Gómez-Conde S, Madariaga L, Valdes N, Castaño L, García-Castaño A, Calcium and Phosphorus Metabolism Molecular Biology Group.   +7 more
europepmc   +1 more source

Editorial: Adrenal insufficiency: diagnostic approaches, treatments, and outcomes, volume II. [PDF]

Front Endocrinol (Lausanne)
Pazderska A, Malchoff CD, Valassi E.
europepmc   +1 more source

Enfermedades Raras y Hemofilia: Un nuevo reto para Enfermería enfermedades raras

, 2016
openaire   +1 more source

Genetic patterns related to von Willebrand factor: implications on the need for mechanical ventilation, severity, and death in COVID-19. [PDF]

Front Med (Lausanne)
López Castro J, Diz-de Almeida S, López Reboiro ML, Sardiña González C, SCOURGE Cohort Group , Riancho JA, Rojas-Martinez A, Lapunzina P, Flores C, Cruz R, Carracedo A.   +10 more
europepmc   +1 more source

Comparte tu experiencia, ¡llámame raro! [PDF]

, 2015
Estévez-Ruiz, Felipe
core  

Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall. [PDF]

Int J Mol Sci
Polo-Alonso S, Hernáez Á, Dégano IR, Martí-Lluch R, Pinsach-Abuin ML, Elosua R, Subirana I, Puigmulé M, Pérez A, Cruz R, Diz-de Almeida S, Puigdecant E, Selga E, Nogues X, Masclans JR, Güerri-Fernández R, Cubero-Gallego H, Tizon-Marcos H, Vaquerizo B, Brugada R, Ramos R, Camps-Vilaró A, Marrugat J.   +22 more
europepmc   +1 more source

La reutilización de biomarcadores para otros fines: oportunidades y dificultades en el cambiante campo de la medicina de laboratorio. [PDF]

Adv Lab Med
Gruson D, Menghoun N, Pouleur AC, Bayes Genis A.   +3 more
europepmc   +1 more source

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia. [PDF]

Osteoporos Int
Alvarez S, Ocampo A, Caso PC, Del Real A, Puente N, Vega AI, Riancho-Zarrabeitia L, García-Unzueta MT, Riancho JA.   +8 more
europepmc   +1 more source