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Agoni
Lv5
3
880 积分
2022-11-01 加入
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Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
18小时前
已关闭
Clinical Utility of Next-generation Sequencing in the Aetiological Diagnosis of Sensorineural Hearing Loss in a Childhood Hearing Loss Unit
21天前
已完结
In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes
1个月前
已完结
[Novel GATA4 mutations identified in patients with congenital atrial septal defects]
1个月前
已关闭
Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines
1个月前
已关闭
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
1个月前
已完结
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
1个月前
已关闭
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
1个月前
已关闭
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
1个月前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
1个月前
已完结
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