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66 积分 2020-09-23 加入
A novel inherited CARD9 deficiency in an otherwise healthy woman with CNS candidiasis
10小时前
已完结
CARD9 Deficiency in a Chinese Man with Cutaneous Mucormycosis, Recurrent Deep Dermatophytosis and a Review of the Literature
10小时前
已完结
[A case of infectious encephalomyelitis caused by CARD9 gene-associated candida albicans infection]
10小时前
已完结
CARD9 mutations in patients with fungal infections: An update from the last 5 years
11小时前
已完结
Review and update of mutations causing Waardenburg syndrome
8天前
已完结
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
27天前
已完结
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration
1个月前
已完结
Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review
1个月前
已完结
Differences of sex development
2个月前
已完结
Prenatal Diagnosis of KBG Syndrome: Phenotypic and Genotypic Features of 12 Fetal Cases With the Disorder
2个月前
已完结
Claustrum mediates bidirectional and reversible control of stress-induced anxiety responses
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