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jtyt
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50 积分
2023-07-23 加入
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy
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Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
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The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
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Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India
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Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients
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Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
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Short Stature With Optic Atrophy and Cone Dystrophy
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Whole‐exome sequencing in syndromic craniosynostosis increases diagnostic yield and identifies candidate genes in osteogenic signaling pathways
25天前
已完结
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