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LeeJYn
Lv1
48 积分
2023-08-16 加入
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Genotype, enzyme activity, glutathione level, and clinical phenotype in patients with glutathione synthetase deficiency
7天前
已完结
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy
20天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
22天前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
1个月前
已完结
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
1个月前
已完结
Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance
2个月前
已完结
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease
2个月前
已完结
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
2个月前
已完结
Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan
3个月前
已完结
没有进行任何应助
信息错误【积分已退回】
3个月前
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6个月前
已找到【积分已退回】
8个月前
标题错误
9个月前
题目不一致 也不是补充材料
9个月前
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11个月前
不需要了【积分已退回】
1年前
找到了【积分已退回】
1年前
内容不对
1年前
不需要了【积分已退回】
1年前
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