Lv616
2210 积分 2023-08-28 加入
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
2小时前
待确认
The diagnostic utility of exome‐based carrier screening in families with a positive family history
4小时前
待确认
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
3天前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
3天前
已完结
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate
4天前
已完结
Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene
7天前
已完结
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations—A study of six unrelated families from India
8天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
9天前
已完结
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
10天前
已完结
[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]
10天前
已完结
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