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110 积分 2024-08-29 加入
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
4天前
已完结
Acupuncture at the Zusanli acupoint can reduce the inflammatory response in AIA mice by regulating the arachidonic acid and pentose phosphate pathways
1个月前
已完结
A New Fluorescent Method for Measuring Peroxiredoxin Enzyme Activity Using Monobromobimane
2个月前
已完结
SUPT5H mutations associated with elevation of Hb A2 level: Identification of two novel variants and literature review
2个月前
已完结
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
2个月前
已完结
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity
2个月前
已完结
X‐linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly
2个月前
已完结
Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3
2个月前
已完结
Fine mapping of Xq11.1‐q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD)
2个月前
已完结
A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2
4个月前
已关闭
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