Belén de la Morena-Barrio

10PUBLICATIONS
17CO-AUTHORS
Genetic immunologyGlycoconjugatesCardiovascular medicine and haematology not elsewhere classifiedAutoimmunityHaematology
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Publications (10)

|Jun 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

|Apr 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

|Nov 20, 2021
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Carlos Bravo-Pérez, María Eugenia de la Morena-Barrio, Belén de la Morena-Barrio

|Jul 29, 2021
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.

María E de la Morena-Barrio, Réka Gindele, Carlos Bravo-Pérez

|Sep 13, 2020
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.

Christelle Orlando, Belén de la Morena-Barrio, Inge Pareyn

|Jun 13, 2020
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

María Eugenia de la Morena-Barrio, María Sabater, Belén de la Morena-Barrio

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