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1دورية أكاديمية
المؤلفون: Jiani Yin, Chun-An Chun, Nikolay N. Zavadenko, Natalia L. Pechatnikova, Oxana Yu. Naumova, Harsha V. Doddapaneni, Jianhong Hu, Donna M. Muzny, Christian P. Schaaf, Elena L. Grigorenko
المصدر: Genes, Vol 11, Iss 8, p 853 (2020)
مصطلحات موضوعية: autism, developmental regression, exon capture and sequencing, variant classification, ACMG standards and guidelines, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
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المؤلفون: Jianhong Hu, Chun-An Chun, Natalia L Pechatnikova, Oxana Yu. Naumova, Donna M. Muzny, Christian P. Schaaf, N. N. Zavadenko, Jiani Yin, Elena L. Grigorenko, Harsha Doddapaneni
المصدر: Genes, Vol 11, Iss 853, p 853 (2020)
Genes
Volume 11
Issue 8مصطلحات موضوعية: Genetic Markers, Male, 0301 basic medicine, lcsh:QH426-470, Autism Spectrum Disorder, CDKL5, autism, Biology, Article, MECP2, Cohort Studies, Loss of heterozygosity, 03 medical and health sciences, EHMT1, 0302 clinical medicine, mental disorders, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, variant classification, Genetics (clinical), exon capture and sequencing, Regressive autism, High-Throughput Nucleotide Sequencing, Infant, ACMG standards and guidelines, medicine.disease, developmental regression, lcsh:Genetics, 030104 developmental biology, Gene Expression Regulation, Autism spectrum disorder, Child, Preschool, Mutation, Disease Progression, Autism, Female, Developmental regression, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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4دورية أكاديمية
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5
المؤلفون: Tae Il Kim, Hyung Seok Park, Eun Ji Nam, Ji Soo Park, Jung Woo Han, Seung-Tae Lee, Jieun Kim, Jung Yun Lee
المصدر: Cancer Research and Treatment : Official Journal of Korean Cancer Association
مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, Cancer Research, Protein Conformation, Genes, BRCA2, Ethnic group, Genes, BRCA1, Korean, 0302 clinical medicine, Databases, Genetic, Ethnicity, Odds Ratio, Medicine, Genetics, education.field_of_study, Middle Aged, Founder Effect, Identification (information), Oncology, 030220 oncology & carcinogenesis, Population Surveillance, Mutation (genetic algorithm), Leu1780Pro, Medical genetics, Hereditary Breast and Ovarian Cancer Syndrome, Female, Original Article, Adult, medicine.medical_specialty, Population, Genomics, 03 medical and health sciences, Structure-Activity Relationship, Republic of Korea, Exome Sequencing, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, education, Genetic Association Studies, business.industry, Computational Biology, Genetic Variation, Odds ratio, BRCA1, ACMG standards and guidelines, BRCA2, Confidence interval, 030104 developmental biology, Mutation, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8244fc418c18fbb7757cb37de17032d
https://pubmed.ncbi.nlm.nih.gov/28111427 -
6دورية أكاديمية
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7دورية أكاديمية
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