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1دورية أكاديمية
المؤلفون: Natalia Gomez-Ospina, Carol J. Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L. Shneider, Jennifer L. Picarsic, Theodora A. Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A. S. Knisely, Milton J. Finegold, Donna M. Muzny, Eric Boerwinkle, James R. Lupski, Sharon E. Plon, Richard A. Gibbs, Christine M. Eng, Yaping Yang, Gabriel C. Washington, Matthew H. Porteus, William E. Berquist, Neeraja Kambham, Ravinder J. Singh, Fan Xia, Gregory M. Enns, David D. Moore
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2
المؤلفون: Patrick Warren, Carol J. Potter, Grant A Morris
المصدر: Journal of Vascular and Interventional Radiology. 32:1623-1625
مصطلحات موضوعية: medicine.medical_specialty, Omphalocele, business.industry, Infant, medicine.disease, Surgery, Ball (bearing), medicine, Bile, Humans, Radiology, Nuclear Medicine and imaging, Biliary sludge, Cardiology and Cardiovascular Medicine, business, Hernia, Umbilical
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المؤلفون: Carol J. Potter
المصدر: Clinics in Perinatology. 47:341-354
مصطلحات موضوعية: Cholestasis, Bile acid transport, Bile acid, business.industry, medicine.drug_class, Infant, Newborn, Infant, Obstetrics and Gynecology, Physiology, Comorbidity, medicine.disease, 03 medical and health sciences, Liver disease, 0302 clinical medicine, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Humans, Medicine, 030212 general & internal medicine, Liver dysfunction, business, Infant, Premature, Organ system
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المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf
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المؤلفون: Bonita R. Fung, Anand Shankar, Houchun H. Hu, Ramkumar Krishnamurthy, Benjamin L. Thompson, Cheryl E. Gariepy, Carol J. Potter
المصدر: Academic radiology. 27(5)
مصطلحات موضوعية: Adult, Liver Cirrhosis, Male, Adolescent, Concordance, 030218 nuclear medicine & medical imaging, Body Mass Index, Correlation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Liver stiffness, Couinaud Segment, Clinical information, medicine, Humans, Radiology, Nuclear Medicine and imaging, Child, Retrospective Studies, business.industry, Stiffness, Infant, Magnetic Resonance Imaging, Magnetic resonance elastography, Liver, 030220 oncology & carcinogenesis, Child, Preschool, Elasticity Imaging Techniques, Female, medicine.symptom, Nuclear medicine, business
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المؤلفون: Gabriel C. Washington, James R. Lupski, David D. Moore, Weimin He, Theodora Jacobson, Matthew H. Porteus, Rui Xiao, Richard A. Gibbs, Mi Sun Kim, Carol J. Potter, Natalia Gomez-Ospina, Christine M. Eng, Ravinder J. Singh, Jing Zhang, Kang Ho Kim, A. S. Knisely, William E. Berquist, Fan Xia, Gregory M. Enns, Eric Boerwinkle, Sharon E. Plon, Benjamin L. Shneider, Milton J. Finegold, Neeraja Kambham, Yaping Yang, Donna M. Muzny, Kandamurugu Manickam, Jennifer Picarsic, Pengfei Liu
المصدر: Nature Communications, Vol 7, Iss 1, Pp 1-8 (2016)
Nature communications, vol 7, iss 1
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Male, Cytoplasmic and Nuclear, General Physics and Astronomy, Receptors, Cytoplasmic and Nuclear, Oral and gastrointestinal, 0302 clinical medicine, Receptors, 2.1 Biological and endogenous factors, Neonatal cholestasis, Aetiology, ABCB11, ATP Binding Cassette Transporter, Subfamily B, Member 11, Pediatric, Intrahepatic, Multidisciplinary, Cholestasis, Bile acid, Liver Disease, Progressive familial intrahepatic cholestasis, G protein-coupled bile acid receptor, 3. Good health, Subfamily B, Member 11, 030211 gastroenterology & hepatology, Female, medicine.medical_specialty, medicine.drug_class, ATP Binding Cassette Transporter, Science, Chronic Liver Disease and Cirrhosis, Cholestasis, Intrahepatic, digestive system, General Biochemistry, Genetics and Molecular Biology, Article, Bile Acids and Salts, 03 medical and health sciences, Young Adult, Rare Diseases, Internal medicine, Genetics, medicine, Humans, business.industry, General Chemistry, medicine.disease, Bile Salt Export Pump, 030104 developmental biology, Endocrinology, Mutation, Farnesoid X receptor, ATP-Binding Cassette Transporters, Digestive Diseases, business
وصف الملف: application/pdf
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المؤلفون: Ramona Bhatt, Carol J. Potter, Barbara L. Gracious
المصدر: Journal of child and adolescent psychopharmacology. 25(8)
مصطلحات موضوعية: medicine.medical_specialty, Cirrhosis, Comorbidity, Non-alcoholic Fatty Liver Disease, Intervention (counseling), Epidemiology, Nonalcoholic fatty liver disease, medicine, Prevalence, Humans, Pharmacology (medical), Obesity, Disease management (health), Intensive care medicine, Psychotropic Drugs, business.industry, Mental Disorders, Disease Management, medicine.disease, Fibrosis, digestive system diseases, Psychiatry and Mental health, Early Diagnosis, Pediatrics, Perinatology and Child Health, Physical therapy, Differential diagnosis, business
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المصدر: Journal of pediatric gastroenterology and nutrition. 53(2)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Radiology, Interventional, Asymptomatic, Medical Records, Cohort Studies, Young Adult, Postoperative Complications, Professional Competence, Biopsy, Medicine, Humans, Adverse effect, Child, Intraoperative Complications, National data, Ohio, Retrospective Studies, Ultrasonography, medicine.diagnostic_test, Radiology Department, Hospital, business.industry, Medical record, Incidence (epidemiology), Incidence, Biopsy, Needle, Gastroenterology, Infant, Newborn, Infant, medicine.disease, Hospitals, Pediatric, Pneumothorax, Liver, Child, Preschool, Pediatrics, Perinatology and Child Health, Workforce, Percutaneous liver biopsy, Female, Radiology, medicine.symptom, business
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المؤلفون: Michael R. Narkewicz, Kathleen B. Schwarz, Lawrence Jones, Michael Durant, Carol J. Potter, Jeffrey N. Rosensweig, Savitri Sharma
المصدر: Journal of pediatric gastroenterology and nutrition. 37(2)
مصطلحات موضوعية: Adult, Blood Platelets, Lung Diseases, Male, Pathology, medicine.medical_specialty, Pancreatic disease, Cystic Fibrosis, Platelet Factor 4, Cystic fibrosis, Pathogenesis, Transforming Growth Factor beta1, Transforming Growth Factor beta, medicine, Humans, Platelet activation, Lung, medicine.diagnostic_test, business.industry, Liver Diseases, Respiratory disease, Gastroenterology, medicine.disease, Platelet Activation, medicine.anatomical_structure, Bronchoalveolar lavage, Case-Control Studies, Pediatrics, Perinatology and Child Health, Female, business, Bronchoalveolar Lavage Fluid, Platelet factor 4, Biomarkers