Search research articles
Contact Us
Filters
Showing results (171-180 of 197) with videos related to
Page
of 20
Sort By:
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 content
Nuria 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 syndrome
Olatz 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 individuals
Maria 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 effect
Carlos 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 deficiency
José 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 infection
Praveen 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 sequencing
Belén 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 assays
Maria 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 Deficiency
Belén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, et al.
Page
of 20
Search research articles
Search
Showing results (171-180 of 197) with videos related to
Sort By:
Page
of 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 content
Nuria 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 syndrome
Olatz 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 individuals
Maria 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 effect
Carlos 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 deficiency
José 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 infection
Praveen 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 sequencing
Belén 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 assays
Maria 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 Deficiency
Belén de la Morena-Barrio, Jonathan Stephens, María Eugenia de la Morena-Barrio, et al.
Page
of 20