Lv11
80 积分 2025-05-23 加入
Expanding clinical phenotype of truncating activation-induced cytidine deaminase variants
12天前
已关闭
Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes
15天前
已关闭
DDOST‐Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant
20天前
已关闭
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy
20天前
已关闭
Genomic Profiling and Response to Immune Checkpoint Inhibition plus Tyrosine Kinase Inhibition in FH-Deficient Renal Cell Carcinoma
27天前
已完结
Genomic and RNA-Seq profiling of patients with HFrEF unraveled OAS1 mutation and aggressive expression
29天前
已完结
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
29天前
已完结
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
1个月前
已完结
AHNAK, regulated by the OSM/OSMR signaling, involved in the development of primary localized cutaneous amyloidosis
1个月前
已完结
Contribution of genetic variants associated with primary immunodeficiencies to childhood-onset systemic lupus erythematous
1个月前
已完结
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