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Exploring Clinico-Genetic Heterogeneity with Two Novel Mutations in KIF1A Gene
13小时前
已关闭
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis
18小时前
待确认
Exploring Clinico-Genetic Heterogeneity with Two Novel Mutations in KIF1A Gene
1天前
已关闭
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
2天前
已完结
P3 Assessment of cofactors for liver fibrosis among patients with hereditary haemochromatosis
7天前
已关闭
A case of intermediate recessive dystrophic epidermolysis bullosa with a novel COL7A1 mutation
7天前
已完结
Differential Diagnosis Challenges in Osteomalacia and Pregnancy and Lactation Associated Osteoporosis: A Case Report
9天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
9天前
已关闭
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation
10天前
已完结
TGFBR2基因变异所致Loeys-Dietz综合征患者1例的临床表现及遗传学分析
14天前
已完结
Contractile Peripapillary Staphyloma
5个月前
已采纳
Major Depression and Generalized Anxiety Disorder
5个月前
已采纳
Chronic Spontaneous Urticaria: How to Assess Quality of Life in Patients Receiving Treatment
5个月前
已采纳
Comparison of Central Nervous System Adverse Effects of Amantadine and Rimantadine Used as Sequential Prophylaxis of Influenza A in Elderly Nursing Home Patients
5个月前
已采纳
The Costs and Effects of Laparoscopic Appendectomy in Children
5个月前
已采纳
The computerized medical record: the next frontier
5个月前
已采纳
The Halo Nevus
5个月前
已采纳
Axon Outgrowth Enhanced by a Previous Nerve Injury
5个月前
已采纳
Disulfiram-Induced Encephalopathy
5个月前
已采纳
Numerical study of the vortex‐induced electroosmotic mixing of non‐Newtonian biofluids in a nonuniformly charged wavy microchannel: Effect of finite ion size
5个月前
已采纳
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