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Maffucci tumours
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创建时间:
2011-07-18
相关数据集
Table1_Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome.xlsx
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Idiopathic thrombocytopenic purpura in a patient with situs inversus totalis: case report and literature review
ABSTRACT Situs inversus totalis is a rare recessive autosomal congenital abnormality in which the mediastinal and abdominal organs are in a mirrored position when compared to the usual topography. The
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Supplementary Material for: Pediatric Macrocorticotropinoma: Do They Differ from Microcorticotropinoma?
Introduction: Cushing’s disease (CD) due to macrocorticotropinoma (MC) in children and adolescents is a rare entity with limited information regarding its characteristics. The objective of the study i
DataCite Commons2023-08-25 更新60
2016-2020年南京罕见皮肤病致病基因一代测序数据以及全外显子高通量测序数据
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