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1دورية أكاديمية
المؤلفون: Yourshaw, Michael, Solorzano-Vargas, R Sergio, Pickett, Lindsay A, Lindberg, Iris, Wang, Jiafang, Cortina, Galen, Pawlikowska-Haddal, Anna, Baron, Howard, Venick, Robert S, Nelson, Stanley F, Martín, Martín G
المصدر: Journal of Pediatric Gastroenterology and Nutrition. 57(6)
مصطلحات موضوعية: Pediatric, Clinical Research, Nutrition, Human Genome, Genetics, Metabolic and endocrine, Codon, Nonsense, Diabetes Insipidus, Diarrhea, Exome, Homozygote, Humans, Infant, Newborn, Malabsorption Syndromes, Male, Proprotein Convertase 1, Sequence Analysis, DNA, enteroendocrine cell, Neurogenin-3, PC1, 3, proprotein convertases, Medical and Health Sciences, Gastroenterology & Hepatology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/29z291dc
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2
المؤلفون: Joo Young Jang, Jin-Joo Lee, Eunsil Yu, Kyung Mo Kim, Young Seo Park, Han-Wook Yoo, Gu-Hwan Kim
المصدر: Journal of pediatric gastroenterology and nutrition. 48(3)
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Nonsense mutation, Vesicular Transport Proteins, Prenatal diagnosis, Infections, Gastroenterology, Fatal Outcome, Cholestasis, Biliary atresia, Biliary Atresia, Internal medicine, medicine, Humans, Abnormalities, Multiple, Neonatal cholestasis, Arthrogryposis, Korea, Ichthyosis, business.industry, Incidence, Infant, Syndrome, medicine.disease, Nephrogenic diabetes insipidus, Failure to Thrive, Pediatrics, Perinatology and Child Health, Mutation, Female, Kidney Diseases, medicine.symptom, business
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3
المؤلفون: R H, Squires, A G, Weinberg, R J, Zwiener, N, Winick
المصدر: Journal of pediatric gastroenterology and nutrition. 16(2)
مصطلحات موضوعية: Liver Cirrhosis, Biliary, Cholangitis, Sclerosing, S100 Proteins, Vinblastine, Liver Transplantation, Histiocytosis, Langerhans-Cell, Liver, Child, Preschool, Xanthomatosis, Humans, Prednisone, Deamino Arginine Vasopressin, Female, Xanthogranuloma, Juvenile, Cholangiography, Diabetes Insipidus, Follow-Up Studies, Skin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::996b2740854d1537d2c0f8d25285ea14
https://pubmed.ncbi.nlm.nih.gov/8450389