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1.
Metachronous Wilms Tumor, Glioblastoma, and T-cell Leukemia in an Child With Constitutional Mismatch Repair Deficiency syndrome due to Novel Mutation in MSH6 (c.2590G>T).
J Pediatr Hematol Oncol
; 43(2): e198-e202, 2021 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31815888
2.
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Am J Med Genet A
; 167A(11): 2795-9, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26238661
3.
Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia.
J Pediatr Neurosci
; 13(2): 205-207, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30090137
4.
Dysarthria, Ataxia, and Dystonia Associated with COX20 (FAM36A) Gene Mutation: A Case Report of a Turkish Child.
Ann Indian Acad Neurol
; 23(3): 399-401, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32606554
5.
Plasminogen activator inhibitor-1 5G/5G genotype is associated with early spontaneous recanalization of the infarct-related artery in patients presenting with acute ST-elevation myocardial infarction.
Coron Artery Dis
; 24(3): 196-200, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23283030
6.
PAI-1 4G/5G gene polymorphism is associated with angiographic patency in ST-elevation myocardial infarction patients treated with thrombolytic therapy.
Coron Artery Dis
; 23(6): 400-3, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22850480
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