Found: 22
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GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-170
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- Publication type:
- Article
GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Intracellular retention of hepatic serpins caused by severe hyperlipidemia.
- Published in:
- Liver International, 2006, v. 26, n. 6, p. 708, doi. 10.1111/j.1478-3231.2006.01274.x
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- Publication type:
- Article
ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1304
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- Publication type:
- Article
Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods.
- Published in:
- British Journal of Haematology, 2019, v. 186, n. 4, p. e82, doi. 10.1111/bjh.15913
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- Publication type:
- Article
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 2, p. 216, doi. 10.1002/ajh.26413
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- Publication type:
- Article
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 11, p. 1363, doi. 10.1002/ajh.26304
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- Publication type:
- Article
A novel genetic variant in PTGS1 affects N‐glycosylation of cyclooxygenase‐1 causing a dominant‐negative effect on platelet function and bleeding diathesis.
- Published in:
- American Journal of Hematology, 2021, v. 96, n. 3, p. E83, doi. 10.1002/ajh.26076
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- Publication type:
- Article
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
- Published in:
- Scientific Reports, 2017, p. 44556, doi. 10.1038/srep44556
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- Publication type:
- Article
Identification of Antithrombin-Modulating Genes. Role of <i>LARGE</i>, a Gene Encoding a Bifunctional Glycosyltransferase, in the Secretion of Proteins?
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064998
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- Publication type:
- Article
Latent and Polymeric Antithrombin: Clearance and Potential Thrombotic Risk.
- Published in:
- Experimental Biology & Medicine, 2007, v. 232, n. 2, p. 219, doi. 10.3181/00379727-207-2320219
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- Publication type:
- Article
Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.
- Published in:
- Liver International, 2020, v. 40, n. 5, p. 1168, doi. 10.1111/liv.14342
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- Publication type:
- Article
Neutrophil extracellular traps and von Willebrand factor are allies that negatively influence COVID‐19 outcomes.
- Published in:
- Clinical & Translational Medicine, 2021, v. 11, n. 1, p. 1, doi. 10.1002/ctm2.268
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- Publication type:
- Article
Control of post-translational modifications in antithrombin during murine post-natal development by miR-200a.
- Published in:
- Journal of Biomedical Science, 2013, v. 20, n. 1, p. 1, doi. 10.1186/1423-0127-20-29
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- Publication type:
- Article
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway.
- Published in:
- 2020
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- Publication type:
- journal article
Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85906-y
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- Publication type:
- Article
A pilot study on the impact of congenital thrombophilia in COVID-19.
- Published in:
- European Journal of Clinical Investigation, 2021, v. 51, n. 5, p. 1, doi. 10.1111/eci.13546
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- Publication type:
- Article
Correction: Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
Identification of Regulatory Mutations in SERPINC1 Affecting Vitamin D Response Elements Associated with Antithrombin Deficiency.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152159
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- Publication type:
- Article
The Infective Polymerization of Conformationally Unstable Antithrombin Mutants May Play a Role in the Clinical Severity of Antithrombin Deficiency.
- Published in:
- Molecular Medicine, 2012, v. 18, n. 5, p. 762, doi. 10.2119/molmed.2012.00017
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- Publication type:
- Article
Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16270, doi. 10.3390/ijms242216270
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- Publication type:
- Article