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1دورية أكاديمية
المؤلفون: Byung Kwon Pi, Yeon Hak Chung, Hyun Su Kim, Soo Hyun Nam, Ah Jin Lee, Da Eun Nam, Hyung Jun Park, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6378 (2024)
مصطلحات موضوعية: autosomal recessive spastic ataxia of Charlevoix-Saguenay disease (ARSACS), cerebellar ataxia, Charcot-Marie-Tooth disease (CMT), Korean, SACS, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Nasrin Tamanna, Byung Kwon Pi, Ah Jin Lee, Sumaira Kanwal, Byung-Ok Choi, Ki Wha Chung
المصدر: Genes, Vol 15, Iss 4, p 485 (2024)
مصطلحات موضوعية: biallelic mutations, GNE, Korean, Nonaka distal myopathy, whole-exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hye Jin Kim, Sang Beom Kim, Hyun Su Kim, Hye Mi Kwon, Jae Hong Park, Ah Jin Lee, Si On Lim, Soo Hyun Nam, Young Bin Hong, Ki Wha Chung, Byung‐Ok Choi
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
مصطلحات موضوعية: Charcot–Marie–Tooth disease, heterogeneity, NEFL, phenotype, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Na Young Jung, Hye Mi Kwon, Da Eun Nam, Nasrin Tamanna, Ah Jin Lee, Sang Beom Kim, Byung-Ok Choi, Ki Wha Chung
المصدر: Genes, Vol 13, Iss 7, p 1219 (2022)
مصطلحات موضوعية: Charcot-Marie-Tooth disease type 1E (CMT1E), Korean, PMP22, point mutation, whole-exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Si On Lim, Na Young Jung, Ah Jin Lee, Hee Ji Choi, Hye Mi Kwon, Wonseok Son, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
المصدر: Genes, Vol 13, Iss 3, p 462 (2022)
مصطلحات موضوعية: Charcot-Marie-Tooth disease type 2, distal hereditary motor neuropathies, HSPB1, HSPB8, HSPB3, Korean, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Hye Mi Kwon, Hyun Su Kim, Sang Beom Kim, Jae Hong Park, Da Eun Nam, Ah Jin Lee, Soo Hyun Nam, Soohyun Hwang, Ki Wha Chung, Byung-Ok Choi
المصدر: Life, Vol 11, Iss 6, p 494 (2021)
مصطلحات موضوعية: Charcot–Marie–Tooth disease, CMTDIF, GNB4, peripheral neuropathy, neuroimaging, Science
وصف الملف: electronic resource
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7
المؤلفون: Dae Gun Lee, Yuno Do, Ah Jin Lee, Da Eun Nam, Ki Wha Chung, Hye Ri Park, Hyun Jung Lee
المصدر: Horticulture, Environment, and Biotechnology. 61:577-590
مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Genetic method, biology, fungi, food and beverages, Plant Science, Horticulture, biology.organism_classification, 01 natural sciences, Plant ecology, Forensic science, 03 medical and health sciences, 030104 developmental biology, Phylogenetic distance, Genetic distance, Genotype, Cultivar, Cymbidium goeringii, 010606 plant biology & botany, Biotechnology
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8
المؤلفون: Jaehong Park, Hyun Su Kim, Hye Mi Kwon, Jiah kim, Soo Hyun Nam, Na Young Jung, Ah Jin Lee, Young Hee Jung, Sang Beom Kim, Ki Wha Chung, Byung-Ok Choi
المصدر: Genesgenomics. 44(8)
مصطلحات موضوعية: Charcot-Marie-Tooth Disease, Mutation, Genetics, Humans, Nuclear Proteins, Molecular Biology, Biochemistry, Transcription Factors
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9
المؤلفون: Soo Hyun Nam, Jae Hong Park, Ki Wha Chung, Soohyun Hwang, Sang Beom Kim, Hye Mi Kwon, Da Eun Nam, Ah Jin Lee, Byung Ok Choi, Hyun Su Kim
المصدر: Life, Vol 11, Iss 494, p 494 (2021)
Life
Volume 11
Issue 6مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, peripheral neuropathy, Science, Charcot–Marie–Tooth disease, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Article, CMTDIF, 03 medical and health sciences, GNB4, 0302 clinical medicine, Gene duplication, medicine, Ecology, Evolution, Behavior and Systematics, Mutation, neuroimaging, medicine.diagnostic_test, business.industry, Paleontology, Magnetic resonance imaging, medicine.disease, Phenotype, Median nerve, 030104 developmental biology, Peripheral neuropathy, Space and Planetary Science, Differential diagnosis, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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10
المؤلفون: Soo Hyun Nam, Byung-Ok Choi, Ah Jin Lee, Ki Wha Chung, Yu Jin Choi, Da Eun Nam
المصدر: Genesgenomics. 42(6)
مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Gene mutation, Biology, medicine.disease_cause, 01 natural sciences, Biochemistry, 03 medical and health sciences, Protein Domains, Charcot-Marie-Tooth Disease, Gene duplication, Genetics, medicine, Humans, Molecular Biology, Gene, Exome sequencing, Mutation, Alanine-tRNA Ligase, Middle Aged, TRNA binding, Phenotype, Human genetics, nervous system diseases, Pedigree, 030104 developmental biology, Female, 010606 plant biology & botany