Lv7
5020 积分 2022-12-09 加入
Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects
28天前
已关闭
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients
30天前
已完结
Nosology of genetic skeletal disorders: 2023 revision
3个月前
已完结
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy
4个月前
已完结
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
4个月前
已关闭
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism
4个月前
已完结
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
4个月前
已完结
Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia
5个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
5个月前
已完结
Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia
6个月前
已完结
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