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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am J Med Genet A. 2023 Sep;191(9):2428-2432. doi: 10.1002/ajmg.a.63340. Epub 2023 Jul 18.
Am J Med Genet A. 2023.
PMID: 37462082
Multiple splice variants of EWSR1-ETS fusion transcripts co-existing in the Ewing sarcoma family of tumors.
Patócs B, Németh K, Garami M, Arató G, Kovalszky I, Szendrői M, Fekete G.
Patócs B, et al.
Cell Oncol (Dordr). 2013 Jun;36(3):191-200. doi: 10.1007/s13402-013-0126-8. Epub 2013 Mar 14.
Cell Oncol (Dordr). 2013.
PMID: 23494411
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Utilisation of fluorescent multiplex PCR and laser-induced capillary electrophoresis for the diagnosis of Ewing family of tumours in formalin-fixed paraffin-embedded tissues.
Patócs B, Németh K, Garami M, Arató G, Kovalszky I, Szendroi M, Fekete G.
Patócs B, et al.
J Clin Pathol. 2012 Dec;65(12):1112-8. doi: 10.1136/jclinpath-2012-201154. Epub 2012 Sep 26.
J Clin Pathol. 2012.
PMID: 23015660
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