Browsing ISCIII - Artículos by Type "journal article"

Now showing items 1-20 of 206

2021-09

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

journal article

de Boer, Elke; Ockeloen, Charlotte W; Matalonga, Leslie; et al.
2018

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

journal article

Alonso-Ferreira, Verónica ISCIII; Sanchez-Diaz, German ISCIII; Villaverde-Hueso, Ana ISCIII; et al.
2008-04-02

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man

journal article

Rodriguez, Laura ISCIII; Liehr, Tomas; Martinez-Fernandez, Maria Luisa ISCIII; et al.
2022-03-08

A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain

journal article

Llamosas-Falcón, Laura; Sánchez-Díaz, Germán; Gallego, Elisa; et al.
2021-09-05

A Small Non-Coding RNA Modulates Expression of Pilus-1 Type in Streptococcus pneumoniae

journal article

Acebo, Paloma ISCIII; Herranz, Cristina; Espenberger, Lucas Bernal; et al.
2023-01-20

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

journal article

Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; et al.
2009-02

Aciertos y errores en la gestión de las crisis de salud pública en España

journal article

Gérvas, Juan; Hernández-Aguado, Ildefonso; Grupo Jornada Situaciones de Crisis; et al.
2016-07-08

Age-associated hydroxymethylation in human bone-marrow mesenchymal stem cells

journal article

Toraño, Estela G; Bayón, Gustavo F.; del Real, Álvaro; et al.
2016-05-31

Agricultural crop exposure and risk of childhood cancer: new findings from a case–control study in Spain

journal article

Gomez-Barroso, Diana ISCIII; García-Pérez, Javier ISCIII; Lopez-Abente, Gonzalo ISCIII; et al.
2021-02

AKT and JUN are differentially activated in mesenchymal stem cells after infection with human and canine oncolytic adenoviruses

journal article

Rodriguez-Milla, Miguel A ISCIII; Morales-Molina, Alvaro ISCIII; Perise-Barrios, Ana Judith ISCIII; et al.
2022-06-30

Alignment between glioblastoma internal clock and environmental cues ameliorates survival in Drosophila

journal article

Jarabo, Patricia; Barredo, Celia G; de Pablo, Carmen; et al.
2018

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

journal article

Torres-Durán, María; Lopez-Campos, José Luis; Barrecheguren, Miriam; et al.
2016

Alpha-1 Antitrypsin Regulates Transcriptional Levels of Serine Proteases in Blood Mononuclear Cells.

journal article

Aggarwal, Nupur; Koepke, Janine; Varela Martinez, Maria del Carmen ISCIII; et al.
2020-09-11

Altered Secretome and ROS Production in Olfactory Mucosa Stem Cells Derived from Friedreich's Ataxia Patients.

journal article

Perez-Luz, Sara ISCIII; Loria, Frida; Katsu-Jiménez, Yurika; et al.
2015-07-04

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

journal article

Matamala, Nerea ISCIII; Varela Martinez, Maria del Carmen ISCIII; Lara, Beatriz; et al.
2019

Analysis of Mortality among Neonates and Children with Spina Bifida: An International Registry-Based Study, 2001-2012.

journal article

Bakker, Marian K; Kancherla, Vijaya; Canfield, Mark A; et al.
2018-10

Antitumor virotherapy using syngeneic or allogeneic mesenchymal stem cell carriers induces systemic immune response and intratumoral leukocyte infiltration in mice

journal article

Morales-Molina, Alvaro ISCIII; Gambera, Stefano ISCIII; Cejalvo, Teresa ISCIII; et al.
2014

Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease

journal article

López-Cacho, José Manuel; Gallardo, Soledad; Posada De la Paz, Manuel ISCIII; et al.
2020-05-19

Attenuated Epigenetic Suppression of Muscle Stem Cell Necroptosis Is Required for Efficient Regeneration of Dystrophic Muscles.

journal article

Sreenivasan, Krishnamoorthy; Ianni, Alessandro; Künne, Carsten; et al.
2021-05-28

Autistic Adult Health and Professional Perceptions of It: Evidence From the ASDEU Project

journal article

Micai, Martina; Ciaramella, Antonio; Salvitti, Tommaso; et al.