Found: 6
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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10190, doi. 10.3390/ijms221910190
- By:
- Publication type:
- Article
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 1, p. 63, doi. 10.15252/emmm.201708168
- By:
- Publication type:
- Article
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
- Published in:
- British Journal of Haematology, 2018, v. 183, n. 2, p. 276, doi. 10.1111/bjh.15531
- By:
- Publication type:
- Article
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.
- Published in:
- British Journal of Haematology, 2018, v. 181, n. 5, p. 698, doi. 10.1111/bjh.14694
- By:
- Publication type:
- Article
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 4, p. 810, doi. 10.1002/epi4.12630
- By:
- Publication type:
- Article