Lv43
640 积分 2025-09-01 加入
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening
28天前
已关闭
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism
28天前
已关闭
Analysis of a child with Very early onset inflammatory bowel disease due to compound heterozygous variants of IL10RA and DUOX2 genes
1个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1个月前
已完结
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
1个月前
已关闭
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy
1个月前
已完结
Domain-specific association of single-nucleotide variants in the LMNA gene with the phenotypic expression of dilated cardiomyopathy
1个月前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
1个月前
已完结
Non-Canonical Splice Site Variant in FREM1 Result in Fetal Renal Agenesis
1个月前
已完结
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity
1个月前
已完结
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