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70 积分 2023-03-16 加入
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort
22天前
已完结
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
3个月前
已关闭
Analysis of initial seizure characteristics in patients with infantile onset genetic epilepsy
3个月前
已完结
Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing
3个月前
已完结
Identification of genetic causes in children with unexplained epilepsy based on trio‐whole exome sequencing
3个月前
已完结
The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population
3个月前
已完结
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
3个月前
已关闭
A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10
3个月前
已完结
A tale of 2 cousins: An atypical and a typical case of abetalipoproteinemia
4个月前
已完结
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review
5个月前
已完结
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