Lv2
120 积分 2025-03-02 加入
A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome
1个月前
已完结
Genetic mutation analysis of hereditary spherocytosis in Guangxi Zhuang Autonomous Region
1个月前
已完结
The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis
1个月前
已完结
Identification of novel mutations in hereditary spherocytosis patients by whole-exome sequencing
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients
2个月前
已完结
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
2个月前
已完结
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
2个月前
已完结
A case series of nine patients with Cerebrotendinous Xanthomatosis from India and a systematized review of Indian literature
2个月前
已完结
First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century
2个月前
已完结
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