Lv75
4710 积分 2022-12-09 加入
Nosology of genetic skeletal disorders: 2023 revision
1个月前
已完结
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy
2个月前
已完结
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
2个月前
已关闭
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism
2个月前
已完结
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
2个月前
已完结
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia
3个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
3个月前
已完结
Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia
4个月前
已完结
Expert consensus on the diagnosis and treatment of Stevens-Johnson syndrome/toxic epidermal necrolysis
5个月前
已完结
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency
6个月前
已完结
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