Lv11
90 积分 2024-09-24 加入
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
19天前
已完结
Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy
1个月前
已完结
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features
1个月前
已完结
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
1个月前
已完结
Hypertriglyceridemia Results From an Impaired Catabolism of Triglyceride-Rich Lipoproteins in PLIN1 -Related Lipodystrophy
1个月前
已完结
The rate of secondary genomic findings in the Saudi population
1个月前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
1个月前
已完结
Outcomes of Cystic Fibrosis Screening–Positive Infants With Inconclusive Diagnosis at School Age
1个月前
已关闭
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
1个月前
已完结
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India
2个月前
已完结
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