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Javier Corral

Showing results (171-180 of 197) with videos related to

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Annals of Neurology|March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Platelets|October 9, 2018
Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid contentNuria Revilla, Javier Corral, Antonia Miñano, et al.
Mitochondrion|November 7, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndromeOlatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, et al.
Scientific Reports|December 29, 2019
ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individualsMaria Pujantell, Roger Badia, Iván Galván-Femenía, et al.
JCI Insight|October 10, 2022
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effectCarlos Bravo-Pérez, Mara Toderici, Joseph E Chambers, et al.
Thrombosis and Haemostasis|April 22, 2016
Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiencyJosé Navarro-Fernández, María Eugenia de la Morena-Barrio, José Padilla, et al.
Nature Microbiology|September 25, 2019
A human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infectionPraveen Papareddy, Madlen Rossnagel, Femke Doreen Hollwedel, et al.
Journal of Thrombosis and Haemostasis : JTH|March 20, 2023
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencingBelén de la Morena-Barrio, Ángeles Palomo, José Padilla, et al.
Blood|April 29, 2022
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assaysMaria Eugenia de la Morena-Barrio, Pierre Suchon, Eva Marie Jacobsen, et al.
Thrombosis and Haemostasis|June 28, 2022
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin DeficiencyBelén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, et al.
Pageof 20

Showing results (171-180 of 197) with videos related to

Sort By:
Pageof 20
Annals of Neurology|March 16, 2019
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)Antonio F Martínez-Monseny, Mercè Bolasell, Laura Callejón-Póo, et al.
Platelets|October 9, 2018
Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid contentNuria Revilla, Javier Corral, Antonia Miñano, et al.
Mitochondrion|November 7, 2025
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndromeOlatz Ugarteburu, Laia Farré-Tarrats, Gerard Muñoz-Pujol, et al.
Scientific Reports|December 29, 2019
ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individualsMaria Pujantell, Roger Badia, Iván Galván-Femenía, et al.
JCI Insight|October 10, 2022
Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effectCarlos Bravo-Pérez, Mara Toderici, Joseph E Chambers, et al.
Thrombosis and Haemostasis|April 22, 2016
Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiencyJosé Navarro-Fernández, María Eugenia de la Morena-Barrio, José Padilla, et al.
Nature Microbiology|September 25, 2019
A human antithrombin isoform dampens inflammatory responses and protects from organ damage during bacterial infectionPraveen Papareddy, Madlen Rossnagel, Femke Doreen Hollwedel, et al.
Journal of Thrombosis and Haemostasis : JTH|March 20, 2023
Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencingBelén de la Morena-Barrio, Ángeles Palomo, José Padilla, et al.
Blood|April 29, 2022
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assaysMaria Eugenia de la Morena-Barrio, Pierre Suchon, Eva Marie Jacobsen, et al.
Thrombosis and Haemostasis|June 28, 2022
Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin DeficiencyBelén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, et al.
Pageof 20