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Showing results 1 to 8 of 8

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Issue Date	Title	Journal Title
2015	An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development	NATURE MEDICINE
2022	Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development	PLOS GENETICS
2015	Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy	NATURE MEDICINE
2023	Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders	JOURNAL OF MOLECULAR DIAGNOSTICS
2022	Genome-wide association study identifies TNFSF15 associated with childhood asthma	ALLERGY
2017	Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia	AMERICAN JOURNAL OF HUMAN GENETICS
2018	Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy	EPILEPSY RESEARCH
2019	The use of technical replication for detection of low-level somatic mutations in next-generation sequencing	NATURE COMMUNICATIONS