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1
المؤلفون: Chun-Yen Wu, Ming-Hsein Tsai, Chia-Chun Chen, Chuan-Hong Kao
المصدر: World Journal of Clinical Cases. 10:2844-2850
مصطلحات موضوعية: General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1430f98b330929b673026ffbaa4afcf9
https://doi.org/10.12998/wjcc.v10.i9.2844 -
2دورية أكاديمية
المؤلفون: Chih-Hsuan Fu, Cheung Leung, Chuan-Hong Kao, Shu-Jen Yeh
المصدر: Journal of the Formosan Medical Association, Vol 114, Iss 8, Pp 769-773 (2015)
مصطلحات موضوعية: deletion 22q11, DiGeorge syndrome, multiplex ligation-dependent probe amplification, Medicine (General), R5-920
وصف الملف: electronic resource
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3
المؤلفون: Chuan-Hong Kao, Shu-Jen Yeh, Cheung Leung, Chih-Hsuan Fu
المصدر: Journal of the Formosan Medical Association, Vol 114, Iss 8, Pp 769-773 (2015)
مصطلحات موضوعية: Cardiofacial syndrome, Pediatrics, medicine.medical_specialty, Chromosomes, Human, Pair 22, Population, Abnormal facial features, Seizures, DiGeorge syndrome, medicine, Humans, Multiplex ligation-dependent probe amplification, Child, multiplex ligation-dependent probe amplification, education, Medicine(all), lcsh:R5-920, education.field_of_study, business.industry, Generalized seizure, deletion 22q11, Brain, General Medicine, medicine.disease, Thymic hypoplasia, Female, Chromosome Deletion, Tomography, X-Ray Computed, lcsh:Medicine (General), business, Multiplex Polymerase Chain Reaction, Rare disease
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4
المؤلفون: Wuh-Liang Hwu, Mei Ying Liu, Shuan-Pei Lin, Dau Ming Niu, Chuan Chi Chiang, Kwang-Jen Hsiao, Chuan Hong Kao, Cheng Hung Huang, Ju Li Lin, Ni-Chung Lee, Huey Jane Ho, Ping Yao Hung, Kang Hsiang Cheng, Yann Jang Chen, Tze Tze Liu, Hsiang-Yu Lin
المصدر: Journal of the Chinese Medical Association, Vol 73, Iss 6, Pp 314-318 (2010)
مصطلحات موضوعية: medicine.medical_specialty, Fulminant, Bicarbonate, Methylmalonic acid, Taiwan, methylmalonic aciduria, Tandem mass spectrometry, Gastroenterology, chemistry.chemical_compound, Neonatal Screening, Ammonia, Internal medicine, Carnitine, tandem mass spectrometry, medicine, Humans, Acetylcarnitine, Medicine(all), Newborn screening, lcsh:R5-920, medicine.diagnostic_test, business.industry, newborn screening, Infant, Newborn, food and beverages, General Medicine, Surgery, chemistry, Methylmalonic aciduria, Liver function tests, business, lcsh:Medicine (General), medicine.drug, Methylmalonic Acid
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5
المؤلفون: Cheng Hung Huang, Chuan-Hong Kao, Ming-Yu Lo, Yung-Hsiu Lu, Hsiao-Chi Yu, Ju-Hui Hsu, Kah-Wai Chong, Tjin-Shing Jap, Dau-Ming Niu
المصدر: The Journal of Clinical Endocrinology & Metabolism. 94:5045-5052
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, DNA Mutational Analysis, Clinical Biochemistry, Taiwan, Thyroid Function Tests, Gene mutation, Biology, medicine.disease_cause, Thyroglobulin, Biochemistry, Thyroid dysgenesis, Exon, Endocrinology, Thyroid dyshormonogenesis, Internal medicine, medicine, Humans, RNA, Messenger, Child, Alleles, Mutation, Biochemistry (medical), Exons, medicine.disease, Congenital hypothyroidism, Phenotype, Child, Preschool, Thyroid Dysgenesis, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4993dace0df4a0dcaf55f0be0b24b68c
https://doi.org/10.1210/jc.2009-0646 -
6
المؤلفون: Ming-Fu Chang, Yi-Hen Kou, Ju-Chien Cheng, Chuan-Hong Kao, Chiung-Hui Chiu, Shin C. Chang, Hung-Yi Wu
المصدر: Journal of Virology. 74:9732-9737
مصطلحات موضوعية: viruses, Amino Acid Motifs, Molecular Sequence Data, Immunology, Replication, Viral Nonstructural Proteins, Arginine, Microbiology, Structure-Activity Relationship, chemistry.chemical_compound, Adenosine Triphosphate, ATP hydrolysis, Virology, Amino Acid Sequence, Histone octamer, dnaB helicase, Adenosine Triphosphatases, NS3, biology, RNA, Helicase, RNA Helicase A, Molecular biology, Biochemistry, chemistry, Insect Science, biology.protein, RNA, Viral, Adenosine triphosphate, RNA Helicases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abbbfa9b67bf48a0269fcebb3a32422b
https://doi.org/10.1128/jvi.74.20.9732-9737.2000 -
7
المؤلفون: Dau-Ming Niu, Chuan-Hong Kao, Miao-Chiu Hung, Shih Jen Chen, Kang-Hsiang Cheng
المصدر: Journal of the Chinese Medical Association, Vol 70, Iss 12, Pp 562-564 (2007)
مصطلحات موضوعية: Marfan syndrome, Male, Pediatrics, medicine.medical_specialty, Adolescent, Homocystinuria, Delayed diagnosis, homocystinuria, Neonatal Screening, medicine, Humans, Family history, Subluxation, Medicine(all), Aspirin, lcsh:R5-920, biology, business.industry, Infant, Newborn, General Medicine, lenticular subluxation, Lens Subluxation, medicine.disease, Cystathionine beta synthase, Surgery, Dipyridamole, biology.protein, business, lcsh:Medicine (General), medicine.drug
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8
المؤلفون: Hsiao-Lin Hwa, Tsang Ming Ko, Pi Mei Hsu, Shue Fun Li, Chuan Hong Kao, Yu Wan Lin, Sou Ming Chuang, Li Hui Tseng
المصدر: American Journal of Hematology. 57:124-130
مصطلحات موضوعية: Genetics, Mutation, Breakpoint, Hematology, Biology, Southeast asian, medicine.disease_cause, Molecular biology, law.invention, Start codon, law, medicine, Deletion mapping, Homologous recombination, Gene, Polymerase chain reaction
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::88f688f79b98d633ca0d58b977cbd270
https://doi.org/10.1002/(sici)1096-8652(199802)57:2<124::aid-ajh6>3.0.co;2-y -
9
المؤلفون: Yu-Cheng Lin, Chuan-Hong Kao
المصدر: Liver international : official journal of the International Association for the Study of the Liver. 32(8)
مصطلحات موضوعية: Type 1 diabetes, medicine.medical_specialty, Hepatology, medicine.diagnostic_test, business.industry, Biopsy, Liver Diseases, MEDLINE, medicine.disease, Diabetes Complications, Diabetes Mellitus, Type 1, Liver, X ray computed, Internal medicine, Diabetes mellitus, Hyperglycemia, Medicine, Humans, Female, business, Intensive care medicine, Child, Tomography, X-Ray Computed, Liver pathology
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10
المؤلفون: Hung Chiang, Kwang-Jen Hsiao, Szu-Hui Chiang, Tze-Tze Liu, Chuan-Chi Chiang, Chuan-Hong Kao, Wuh-Liang Hwu, Shu Min Kao, Dau-Ming Niu, Hui-Chen Ho, Yin-Hsiu Chien
المصدر: Journal of inherited metabolic disease. 33(Suppl 2)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Time Factors, National Health Programs, Population, Taiwan, Homocystinuria, Glutaric aciduria type 1, Carnitine transport, Hyperphenylalaninemia, Neonatal Screening, Predictive Value of Tests, Tandem Mass Spectrometry, Internal medicine, Genetics, medicine, Humans, education, Genetics (clinical), education.field_of_study, Newborn screening, Blood Specimen Collection, biology, Chemistry, Maple syrup urine disease, Incidence, Infant, Newborn, nutritional and metabolic diseases, Acyl CoA dehydrogenase, medicine.disease, Prognosis, Endocrinology, Health Care Surveys, biology.protein, Biomarkers, Metabolism, Inborn Errors