2024年4月15日-狗急加速器
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2024年4月15日-狗急加速器
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Cold Spring Harbor Perspectives in Biology
Cold Spring Harbor Perspectives in Medicine
Cold Spring Harbor Protocols
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Genes & Development
Learning & Memory
Life Science Alliance
RNA
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2024年4月15日-狗急加速器
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2024年4月15日-狗急加速器
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2024年4月15日-狗急加速器
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2024年4月15日-狗急加速器
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2024年4月15日-狗急加速器
2024年4月15日-狗急加速器
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Editorial: Pediatric genetics
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Identification of novel compound heterozygous mutations in ABCA3 lipid transporter in a neonate with respiratory failure
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Evaluation of causal alterations, prevalence of mosaicism in disease-causing variants, and diagnostic yield in a clinical
exome sequencing cohort of 357 pediatric patients
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A novel IRAK4 variant identified in an 11-month-old boy with concurrent bacterial infections and a blunted inflammatory response to invasive
infection
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New insights into an important mechanism of early-onset Wilson disease caused by ATP7B exon skipping
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RNA-based analysis aids in variant interpretation for a boy with reticular dysgenesis
2024年4月15日-狗急加速器
Richard Sever interviews Editor-in-Chief Elaine Mardis
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Cold Spring Harbor Molecular Case Studies
— an open-access journal in precision medicine. Articles present genomic and molecular analyses of individuals or cohorts
alongside their clinical presentations and phenotypic information. The aim is to rapidly share insights into disease development
and treatment gained by the application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches to
cancer, complex diseases, monogenic disorders, neurological conditions, and infectious disease.