Lv43
594 积分 2024-08-07 加入
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects
6小时前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships
20天前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype-phenotype relationships
20天前
已完结
Nine novel HOGA1 gene mutations identified in primary hyperoxaluria type 3 and distinct clinical and biochemical characteristics in Chinese children
20天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
1个月前
已完结
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype
1个月前
已关闭
Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype
1个月前
已完结
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center
1个月前
已完结
Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency
1个月前
已完结
Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman–Bodian–Diamond syndrome
1个月前
已完结
皖公网安备34019202002308
