Lv4
540 积分 2025-08-12 加入
Neonatal PURA syndrome mimicking cervical spinal cord injury after a cesarean section for a breech presentation: A case report
2天前
已完结
Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights
15天前
已完结
Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome
20天前
已完结
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex
26天前
已完结
P793: Segregation of a nonsense variant in TP63 in a five-generation family with non-syndromic cleft lip and palate
27天前
已关闭
[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]
1个月前
已完结
Genetic results and clinical outcome of fetuses with cardiac rhabdomyoma including a novel mutation in TSC2 gene
1个月前
已完结
Congenital and infantile nephrotic syndrome: genotype-phenotype associations
1个月前
已完结
Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
1个月前
已完结
Hypochloremic Hypokalemic Metabolic Alkalosis as a Manifestation of CFTR‐Related Disorder
1个月前
已关闭
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