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1دورية أكاديمية
المؤلفون: Ryu, Jae Hui, Kim, Hwa Young, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo, Choi, Byung Yoon, Chae, Jong Hee
المصدر: In European Journal of Medical Genetics May 2022 65(5)
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2دورية أكاديمية
المؤلفون: Kim, Tae Hyeong, Kim, Kwang Yeon, Kim, Man Jin, Seong, Moon-Woo, Park, Sung Sup, Moon, Jin Soo, Ko, Jae Sung
المصدر: In European Journal of Medical Genetics June 2020 63(6)
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3
المؤلفون: Jae Hui Ryu, Hwa Young Kim, Jung Min Ko, Man Jin Kim, Moon-Woo Seong, Byung Yoon Choi, Jong Hee Chae
المصدر: European Journal of Medical Genetics. 65:104478
مصطلحات موضوعية: Micrognathism, General Medicine, Peptide Elongation Factors, Republic of Korea, Microcephaly, Genetics, Humans, Abnormalities, Multiple, Child, Hearing Loss, Mandibulofacial Dysostosis, Ribonucleoprotein, U5 Small Nuclear, Genetics (clinical), Tracheoesophageal Fistula
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4
المؤلفون: Tae Hyeong Kim, Kwang Yeon Kim, Man Jin Kim, Jae Sung Ko, Sung Sup Park, Jin Soo Moon, Moon Woo Seong
المصدر: European journal of medical genetics. 63(6)
مصطلحات موضوعية: Glycogen Storage Disease Type IX, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Phosphorylase Kinase, Gastroenterology, Frameshift mutation, Internal medicine, Genetics, medicine, Missense mutation, Glycogen storage disease, Humans, Genetic Testing, Phosphorylase kinase, Genetics (clinical), medicine.diagnostic_test, business.industry, Hypertriglyceridemia, nutritional and metabolic diseases, Infant, General Medicine, medicine.disease, Glycogen Storage Disease, Hepatocellular carcinoma, Liver biopsy, Child, Preschool, Mutation, Female, business
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5
المؤلفون: Jae Hyeon Kim, Kwang-Won Kim, Hee Kyung Kim, Sang-Man Jin, Sunghwan Suh, Mi Yeon Kim, Hyung-Doo Park, Chang-Seok Ki, Se Won Kim, Kyu Yeon Hur
المصدر: European journal of medical genetics. 55(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cerebellar Ataxia, Chenodeoxycholic Acid, Cerebrotendinous Xanthomatosis, Cataract, chemistry.chemical_compound, Cataracts, INDEL Mutation, Chenodeoxycholic acid, Internal medicine, Intellectual Disability, CYP27A1, Genetics, medicine, Humans, Genetics (clinical), Cerebellar ataxia, business.industry, Cholestanol, Siblings, Peripheral Nervous System Diseases, General Medicine, Sequence Analysis, DNA, Xanthomatosis, Cerebrotendinous, Middle Aged, medicine.disease, Pedigree, Endocrinology, Peripheral neuropathy, chemistry, Amino Acid Substitution, Cholestanetriol 26-Monooxygenase, Female, medicine.symptom, business