Lv6
2130 积分 2024-11-14 加入
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy
4天前
已完结
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels
12天前
已完结
30-year follow-up of a patient with classic citrullinemia
13天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
1个月前
已完结
Germline CDKN1B variant type and site are associated with phenotype in MEN4
2个月前
已关闭
A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases
3个月前
已完结
Glomovenous malformation secondary to a heterozygous nonsense variant in GLMN: a clinical mimicker of blue rubber bleb naevus syndrome
3个月前
已完结
Dual Diagnosis of Sifrim–Hitz–Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim–Hitz–Weiss Syndrome and Quick Literature Review
3个月前
已完结
A Deletion in Duchenne Muscular Dystrophy Gene Found Through Whole Exome Sequencing in Iran
4个月前
已完结
Next-generation DNA sequences identifies mutated FANCD2 Gene as a novel Biomarker for early disease progression in Chronic Myeloid Leukemia patients
5个月前
已完结
皖公网安备34019202002308
