Detalles de la búsqueda
1.
Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.
J Pediatr Hematol Oncol;
43(4): e577-e579, 2021 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32496441
2.
Further Characterization of Hb Bronovo [α103(G10)HisâLeu; HBA2: c.311A>T] and First Report of the Homozygous State.
Hemoglobin;
44(3): 174-178, 2020 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32552204
3.
Case Report: Development of Factor VIII Inhibitor in a Patient with an Uncommon de novo Mutation in the Factor VIII Gene.
Acta Haematol;
141(3): 129-134, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30783064
4.
Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience.
Semin Thromb Hemost;
44(3): 287-292, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28905352
5.
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
Am J Med Genet A;
176(12): 2819-2823, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30369044
6.
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Am J Hematol;
2018 May 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-29790589
7.
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
Platelets;
29(1): 91-94, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29090612
8.
Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family.
Platelets;
27(7): 712-715, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27123948
9.
A Novel ß-Globin Chain Hemoglobin Variant, Hb Allentown [ß137(H15)ValâTrp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.
Hemoglobin;
40(2): 130-3, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26681102
10.
Factor V Deficiency with a Thrombotic Clinical Phenotype.
Semin Thromb Hemost;
45(1): 108-112, 2019 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-30630204
11.
An Erythrocytosis-Associated Mutation in the Zinc Finger of PHD2 Provides Insights into Its Binding of p23.
Hypoxia (Auckl);
7: 81-86, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31853455
12.
Practice patterns in the diagnosis of inherited platelet disorders within a single institution.
Blood Coagul Fibrinolysis;
28(4): 303-308, 2017 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27607598
13.
Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia.
Leuk Lymphoma;
58(8): 1963-1967, 2017 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27931139
Resultados
1 -
13
de 13
1
Próxima >
>>