about
P1889
Wiskott-Aldrich syndrome in a child presenting with macrothrombocytopenia.Amelioration of the severity of heparin-binding antithrombin mutations by posttranslational mosaicism.Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.Uniparental disomy causes deficiencies of vitamin K-dependent proteins.Persistent cytotoxic T lymphocyte expansions after allogeneic haematopoietic stem cell transplantation: kinetics, clinical impact and absence of STAT3 mutations.Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapyCorrection: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.Genotype-guided therapy improves initial acenocoumarol dosing. Results from a prospective randomised study.Identification of a New Mechanism of Antithrombin Deficiency Hardly Detected by Current Methods: Duplication of SERPINC1 Exon 6.Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.Effect of VKORC1, CYP2C9 and CYP4F2 genetic variants in early outcomes during acenocoumarol treatment.High levels of latent antithrombin in plasma from patients with antithrombin deficiency.A new method to quantify β-antithrombin glycoform in plasma reveals increased levels during the acute stroke eventCompound heterozygosity involving Antithrombin Cambridge II (p.Ala416Ser) in antithrombin deficiencyRegulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiencyArcheogenetics of F11 p.Cys38Arg: a 5400-year-old mutation identified in different southwestern European countriesALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
P50
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P50
description
researcher at University of Murcia, Spain
@en
name
José Padilla Ruiz
@an
José Padilla Ruiz
@ast
José Padilla Ruiz
@br
José Padilla Ruiz
@ca
José Padilla Ruiz
@co
José Padilla Ruiz
@da
José Padilla Ruiz
@de
José Padilla Ruiz
@en
José Padilla Ruiz
@es
José Padilla Ruiz
@eu
type
label
José Padilla Ruiz
@an
José Padilla Ruiz
@ast
José Padilla Ruiz
@br
José Padilla Ruiz
@ca
José Padilla Ruiz
@co
José Padilla Ruiz
@da
José Padilla Ruiz
@de
José Padilla Ruiz
@en
José Padilla Ruiz
@es
José Padilla Ruiz
@eu
prefLabel
José Padilla Ruiz
@an
José Padilla Ruiz
@ast
José Padilla Ruiz
@br
José Padilla Ruiz
@ca
José Padilla Ruiz
@co
José Padilla Ruiz
@da
José Padilla Ruiz
@de
José Padilla Ruiz
@en
José Padilla Ruiz
@es
José Padilla Ruiz
@eu
P106
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56345707400
P1889
P1950
P21
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P496
0000-0003-1599-7870