Results 31 to 40 of about 1,958 (129)

Different Contribution of Missense and Loss‐of‐Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease

open access: yesMedComm, Volume 6, Issue 10, October 2025.
This study examines the genetic basis of sporadic (SMD) and familial Meniere disease (FMD) by comparing rare protein‐coding variants using exome sequencing and gene burden analysis. FMD patients had a higher accumulation of missense and LoF variants, especially in genes linked to auditory and vestibular function.
Alberto M. Parra‐Perez   +5 more
wiley   +1 more source

El uso de la rúbrica en la comunicación y expresión emocional mediante leyendas en el alumnado con NEE; Programa DISEMFE [PDF]

open access: yes, 2015
La presente investigación se enmarca en el ámbito de la expresión y comunicación emocional en niños/as con Necesidades Educativas Especiales. Cuyo objetivo principal es el de diseñar una rúbrica de evaluación con la que identificar los conocimientos de
Nieves Flores, Elena
core  

Biotecnología y sociedad: conflicto, desarrollo y regulación [PDF]

open access: yes, 1993
Publicado en Arbor, 585: 9-47, 1994.[EN] Some of the major issues related to the development of contemporary biotechnology/genetic engineering are analysed in this Working Paper.
Luján, José Luis, Moreno, Luis
core   +1 more source

Study of brain perfusion in adults with Down syndrome along the Alzheimer's disease continuum

open access: yesAlzheimer's &Dementia, Volume 21, Issue 9, September 2025.
Abstract INTRODUCTION We assessed pseudo‐continuous arterial spin labeling (pCASL) sensitivity to detect changes in cerebral blood flow (CBF) in adults with Down syndrome (DS) along the Alzheimer's disease (AD) continuum and explored the similarity with sporadic AD (sAD) hypoperfusion profile.
Maria Franquesa‐Mullerat   +21 more
wiley   +1 more source

Características operativas de los puntajes TIMI y GRACE en pacientes con síndrome coronario agudo sin elevación del ST atendidos en el servicio de urgencias de la Clínica los Rosales durante el año 2015 [PDF]

open access: yes, 2017
"La ciencia de la incertidumbre, el arte de las probabilidades", así describió en alguna ocasión Sir. William Osler a la medicina; esta corta frase demuestra el nivel de duda que deben tolerar y contemplar en cada momento los médicos.
Moreno Gallego, Camilo Andrés
core  

Benefits and complications of fetal and postnatal surgery for open spina bifida: systematic review and proportional meta‐analysis

open access: yesUltrasound in Obstetrics &Gynecology, Volume 66, Issue 2, Page 135-146, August 2025.
ABSTRACT Objective To derive pooled estimates of maternal, fetal and pediatric outcomes up to the age of 30 months in patients undergoing pre‐ or postnatal surgery for open spina bifida (OSB). Methods A systematic search was conducted in MEDLINE, PubMed (non‐MEDLINE records), Embase, Web of Science, ClinicalTrials.gov, Cochrane Central Register of ...
Y. Kunpalin   +10 more
wiley   +1 more source

Programa de intervención cognitiva en adolescentes con déficit atencional de una comunidad indígena de Chiapas [PDF]

open access: yes, 2014
El objetivo del estudio es evaluar un programa de intervención en adolescentes con déficit de atención y problemas de conducta de una comunidad indígena de Chiapas, 15 de los cuales forman el grupo control y 5 el grupo de estudio, seleccionados a ...
Cruz Pérez, Oscar   +2 more
core  

Perfil e distribuição da síndrome cólica em equinos em três unidades militares do Estado do Rio de Janeiro, Brasil [PDF]

open access: yes, 2009
Este estudo teve como objetivo avaliar o perfil e a distribuição da síndrome cólica em eqüinos de três unidades militares no Estado do Rio de Janeiro, o Regimento Escola de Cavalaria (REsC), a Academia Militar das Agulhas Negras (AMAN) e o Esquadrão ...
Almeida, Fernando Queiroz de   +6 more
core   +2 more sources

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli   +13 more
wiley   +1 more source

Activity/inactivity circadian rhythm shows high similarities between young obesity-induced rats and old rats [PDF]

open access: yes, 2016
The objective of the present study was to compare differences between elderly rats and young obesity-induced rats in their activity/inactivity circadian rhythm.
Barriga, C   +8 more
core   +1 more source

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