Lv41
490 积分 2024-09-14 加入
Neonatal hyperbilirubinemia: past lessons, current practices, and future directions
15天前
已完结
A novel fusion gene and a common α0-thalassemia deletion cause hemoglobin H disease in a Chinese family
16天前
已完结
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: First South Asian study
20天前
已完结
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic
27天前
已完结
Myasthenia graves-like symptoms associated with rare mitochondrial mutation (m.5728T>C)
1个月前
已完结
Identification of LargeNF1Duplications Reciprocal to NAHR-Mediated Type-1NF1Deletions
2个月前
已完结
Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency
2个月前
已完结
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B
3个月前
已完结
A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
3个月前
已完结
A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann–Pick disease
3个月前
已完结
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