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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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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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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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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
坚果海外加速器_坚果VP加速器-nuts坚果国外加速器官网
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.