Lv69
3110 积分 2023-11-07 加入
3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
5天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
5天前
已完结
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants
16天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
17天前
已完结
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
24天前
已完结
Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies
1个月前
已完结
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007–2014)
1个月前
已完结
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
1个月前
已完结
PROGNOSTIC SIGNIFICANCE OF ACTN3 GENOTYPE IN DUCHENNE MUSCULAR DYSTROPHY: FINDINGS FROM AN ARGENTINE PATIENT COHORT
1个月前
已关闭
PROGNOSTIC SIGNIFICANCE OF ACTN3 GENOTYPE IN DUCHENNE MUSCULAR DYSTROPHY: FINDINGS FROM AN ARGENTINE PATIENT COHORT
1个月前
已完结
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