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1Academic Journal
المؤلفون: Catherine Morgan, Stefanie Hennig, Kristen Gibbons, Vicki Flenady, Sailesh Kumar, Pieter Koorts, Nadia Badawi, Roslyn N Boyd, Paul A Dawson, Elizabeth M Hurrion, Manbir Chauhan, Francis Bowling
المصدر: BMJ Open, Vol 13, Iss 7 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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2
المؤلفون: Peter H. Scott, Thomas J. Morgan, Francis Bowling, Chris Anstey
المصدر: Journal of Clinical Monitoring and Computing. 35:757-764
مصطلحات موضوعية: medicine.medical_specialty, Diabetic ketoacidosis, business.industry, Health Informatics, Metabolic acidosis, Emergency department, Critical Care and Intensive Care Medicine, medicine.disease, Anesthesiology and Pain Medicine, Internal medicine, Intensive care, medicine, Cardiology, Tonicity, Hyperlactatemia, Hemoglobin, business, Complication
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3
المؤلفون: Francis Bowling, Tony Badrick, Joel D Smith
المصدر: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 57:206-214
مصطلحات موضوعية: Data Analysis, Quality Control, Analyte, Models, Statistical, Distribution (number theory), business.industry, media_common.quotation_subject, Clinical Biochemistry, Control (management), Clinical Chemistry Tests, General Medicine, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Bias, 030220 oncology & carcinogenesis, Humans, Quality (business), Process engineering, business, Retrospective Studies, media_common
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4Academic Journal
المؤلفون: Paul Dawson, Aoife Elliott, Francis Bowling
المصدر: Nutrients; Volume 7; Issue 3; Pages: 1594-1606
مصطلحات موضوعية: sulphate, sulphonation, foetal development, pregnancy, gestation
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: https://dx.doi.org/10.3390/nu7031594
الاتاحة: https://doi.org/10.3390/nu7031594
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5
المؤلفون: Thorsten Marquardt, Monique van Scherpenzeel, John Vissing, Mirian C. H. Janssen, Dirk Lefeber, Francis Bowling, Nurulamin Abu Bakar, Jolanta Sykut-Cegielska, Ellen Crushell, Christian Thiel, Eva Morava, Hana Hansikova, Lars Mørkrid, Nicol C. Voermans
المصدر: Abu Bakar, N, Voermans, N C, Marquardt, T, Thiel, C, Janssen, M C H, Hansikova, H, Crushell, E, Sykut-Cegielska, J, Bowling, F, MØrkrid, L, Vissing, J, Morava, E, van Scherpenzeel, M & Lefeber, D J 2018, ' Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency ', Translational Research, vol. 199, pp. 62-76 . https://doi.org/10.1016/j.trsl.2018.04.008
Translational Research, 199, 62-76
Translational Research, 199, pp. 62-76مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Transferrin/metabolism, Gastroenterology, Mass Spectrometry, Galactose/therapeutic use, chemistry.chemical_compound, 0302 clinical medicine, Child, Fucosylation, Chromatography, High Pressure Liquid, chemistry.chemical_classification, biology, Transferrin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Middle Aged, Glycogen Storage Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Child, Preschool, Female, Adult, medicine.medical_specialty, Glycan, Adolescent, Sensitivity and Specificity, Article, Glycomics, Abnormal glycosylation, 03 medical and health sciences, Young Adult, Physiology (medical), Internal medicine, PGM1, medicine, Humans, Glycogen Storage Disease/blood, Monitoring, Physiologic, business.industry, Biochemistry (medical), Public Health, Environmental and Occupational Health, Galactose, Infant, medicine.disease, carbohydrates (lipids), 030104 developmental biology, Early Diagnosis, chemistry, biology.protein, business, Congenital disorder of glycosylation, Biomarkers, 030217 neurology & neurosurgery, Biomarkers/blood
وصف الملف: application/pdf
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6
المؤلفون: Miao He, Jozef Hertecant, Jolanta Sykut-Cegielska, Nurulamin Abu Bakar, Sunnie Yan Wai Wong, Francis Bowling, David Nguyen, Stefanie Perez, Tim L. Emmerzaal, Katja S. Brocke Holmefjord, Jaak Jaeken, Kea Crivelly, Gernot Poschet, Dieter Koch, Amanda M. Ackermann, Eva Morava, François Foulquier, Dirk Lefeber, Hana Hansikova, Nicole Peeters, Marit Mork, K. Michael Gibson, Kimiyo Raymond, Therese Gadomski, Graeme Preston, Christian Thiel, Monique van Scherpenzeel, Tomas Honzik, Tamas Kozicz
المساهمون: Tulane University, Radboud University Medical Center [Nijmegen], First Faculty of Medicine Charles University [Prague], University of Stavanger, University Hospitals Leuven [Leuven], Washington State University (WSU), Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-Université de Lille-Centre National de la Recherche Scientifique (CNRS)
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2017, Genetics in Medicine. Official Journal of the American College of Medical Genetics, 19 (11), pp.1226-1235. ⟨10.1038/gim.2017.41⟩
Genetics in Medicine, 19, 11, pp. 1226-1235
Genetics in Medicine, 19, 1226-1235مصطلحات موضوعية: 0301 basic medicine, Blood Glucose, Male, D-galactose, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Mannose, Administration, Oral, Pilot Projects, N-glycosylation, glycomics, chemistry.chemical_compound, Prospective Studies, Child, Creatine Kinase, Genetics (clinical), Skin, chemistry.chemical_classification, O-glycosylation, biology, medicine.diagnostic_test, Transferrin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Glycogen Storage Disease, 3. Good health, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry, liver function, Child, Preschool, Administration, Female, Drug, Partial thromboplastin time, Oral, medicine.medical_specialty, Glycosylation, endocrine, LLO, Adolescent, Antithrombin III, Aspartate transaminase, Neurophysiology, phosphoglucomutase 1, Article, Dose-Response Relationship, 03 medical and health sciences, Young Adult, Internal medicine, PGM1, medicine, Humans, coagulation, Adverse effect, Preschool, Blood Coagulation, Glycoproteins, Dose-Response Relationship, Drug, business.industry, Galactose, Infant, carbohydrates (lipids), 030104 developmental biology, Endocrinology, Alanine transaminase, chemistry, Phosphoglucomutase, biology.protein, Glycoprotein, transferrin glycoforms, business
وصف الملف: application/pdf
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7
المؤلفون: Francis Bowling, Paul A. Dawson, Aoife Elliott
المصدر: Nutrients, Vol 7, Iss 3, Pp 1594-1606 (2015)
Nutrientsمصطلحات موضوعية: medicine.medical_specialty, lcsh:TX341-641, Review, Biology, Fetal Development, gestation, Internal medicine, medicine, Animals, Humans, Prenatal Nutritional Physiological Phenomena, foetal development, sulphonation, Fetus, Pregnancy, Nutrition and Dietetics, Reabsorption, Sulfates, Metabolism, medicine.disease, sulphate, Diet, Pregnancy Complications, Amino Acids, Sulfur, Endocrinology, In utero, Gestation, Female, pregnancy, Deficiency Diseases, lcsh:Nutrition. Foods and food supply, Homeostasis, Food Science, Hormone
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8
المؤلفون: Francis Bowling, Matthew Reimer, Paul A. Dawson, Avis McWhinney
المصدر: Journal of Chromatography & Separation Techniques.
مصطلحات موضوعية: chemistry.chemical_compound, Chromatography, Chemistry, Ion chromatography, Urine, Sulfate, Plasma serum
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9
المؤلفون: William Bor, Angela J. Dean, Kareen Adam, Francis Bowling, Mark A. Bellgrove
المصدر: Journal of Child and Adolescent Psychopharmacology. 24:140-148
مصطلحات موضوعية: medicine.medical_specialty, Aggression, Poison control, Aggression Scale, Strengths and Difficulties Questionnaire, Placebo, Crossover study, law.invention, Psychiatry and Mental health, Randomized controlled trial, law, Pediatrics, Perinatology and Child Health, medicine, Pharmacology (medical), medicine.symptom, Psychology, Psychiatry, Modified Overt Aggression Scale, Clinical psychology
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10
المؤلفون: Paul A. Dawson, Avis McWhinney, Helen Heussler, Francis Bowling
المصدر: Biochemical Genetics. 51:147-153
مصطلحات موضوعية: Adult, Male, Heterozygote, medicine.medical_specialty, Adolescent, Urinary system, Biology, Polymerase Chain Reaction, Biochemistry, Cohort Studies, Excretion, Young Adult, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Autistic Disorder, Sulfate, Child, Molecular Biology, Wasting, Ecology, Evolution, Behavior and Systematics, Base Sequence, Sulfates, Homozygote, Infant, General Medicine, medicine.disease, Endocrinology, chemistry, Child, Preschool, Cohort, Etiology, Sulfate transporter, Autism, Female, medicine.symptom
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11
المؤلفون: Francis Bowling
المصدر: Seminars in Cell & Developmental Biology. 22:611-618
مصطلحات موضوعية: Vitamin, Phosphorylases, Coenzymes, Biology, Antioxidants, Fetal Development, Mice, chemistry.chemical_compound, Fetus, Pregnancy, medicine, Animals, Humans, Neurotransmitter metabolism, Pyridoxal phosphate, Pyridoxal, Neurotransmitter Agents, Fatty acid metabolism, Infant, Newborn, Gene Expression Regulation, Developmental, Cell Biology, Embryo, Mammalian, Pyridoxine, Vitamin B 6, Diet, chemistry, Biochemistry, Vitamer, Female, Pyridoxamine, Vitamin B 6 Deficiency, Spasms, Infantile, Signal Transduction, Developmental Biology, medicine.drug
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12
المؤلفون: Helen Heussler, Francis Bowling, T. B. Munce
المصدر: Journal of Intellectual Disability Research. 54:929-937
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Apolipoprotein B, Abnormal glycosylation, chemistry.chemical_compound, Arts and Humanities (miscellaneous), Internal medicine, Intellectual disability, Genotype, medicine, chemistry.chemical_classification, biology, Rehabilitation, nutritional and metabolic diseases, medicine.disease, Phenotype, nervous system diseases, Psychiatry and Mental health, Endocrinology, Neurology, chemistry, biology.protein, lipids (amino acids, peptides, and proteins), Neurology (clinical), Abnormality, Psychology, Glycoprotein
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13
المؤلفون: Enzo Ranieri, John Christodoulou, Veronica Wiley, Carolyn Ellaway, David Cowley, Joy Yaplito-Lee, Avihu Boneh, Francis Bowling, Bridget Wilcken, James Pitt, Kevin Carpenter, Barry Lewis, Edwin P. Kirk, Heidi Peters, Janice M. Fletcher, James McGill, Pamela Joy, Marion Haas
المصدر: Pediatrics. 124:e241-e248
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Cross-sectional study, Developmental Disabilities, Population, Acyl-CoA Dehydrogenase, Cohort Studies, Neonatal Screening, Predictive Value of Tests, Tandem Mass Spectrometry, Cause of Death, medicine, Humans, Longitudinal Studies, Child, education, education.field_of_study, Newborn screening, business.industry, Infant, Newborn, Australia, Infant, Odds ratio, MCADD, medicine.disease, Cross-Sectional Studies, Child, Preschool, Predictive value of tests, Pediatrics, Perinatology and Child Health, Cohort, Female, business, Metabolism, Inborn Errors, Cohort study
وصف الملف: application/pdf
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14
المؤلفون: Tony Huynh, Gary M. Leong, David Cowley, Ohn Nyunt, Francis Bowling, Ristan M. Greer, Andrew Cotterill, Mark Harris
المصدر: Pediatric Diabetes. 10:38-43
مصطلحات موضوعية: Type 1 diabetes, medicine.medical_specialty, endocrine system diseases, Diabetic ketoacidosis, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, medicine.disease, vitamin D deficiency, Ketoacidosis, Endocrinology, Diabetes mellitus, Internal medicine, Pediatrics, Perinatology and Child Health, Internal Medicine, medicine, Vitamin D and neurology, medicine.symptom, business, Acidosis
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15
المؤلفون: Teresa Munce, Robert Simpson, Francis Bowling
المصدر: Genetic Testing. 12:319-324
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Gene Dosage, Diamines, Biology, Polymerase Chain Reaction, Contiguous gene syndrome, medicine, Humans, Benzothiazoles, Organic Chemicals, Imprinting (psychology), In Situ Hybridization, Fluorescence, Genetics (clinical), Genetics, Chromosomes, Human, Pair 15, medicine.diagnostic_test, Mouth Mucosa, nutritional and metabolic diseases, Epithelial Cells, DNA, medicine.disease, Molecular biology, Uniparental disomy, genomic DNA, Real-time polymerase chain reaction, DNA methylation, Leukocytes, Mononuclear, Quinolines, Chromosome Deletion, Genomic imprinting, Prader-Willi Syndrome, Fluorescence in situ hybridization
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16
المؤلفون: Katja S. Brocke Holmefjord, Tomas Honzik, Jaak Jaeken, Lesa J. Beamer, Daisy Rymen, Tamas Kozicz, Dieter Koch, Francis Bowling, Jolanta Sykut-Cegielska, Marit Mork, Thomas Marquardt, Moeen Al-Sayed, Therese Gadomski, Sunnie Yan-Wai Wong, Saskia B. Wortmann, Avraham Zeharia, Dirk Lefeber, Amanda M. Ackermann, Eva Morava, Donald F. Conrad, Miski Mohamed, Charles A. Stanley
المصدر: Journal of Pediatrics, 175, pp. 130-136.e8
Journal of Pediatrics, 175, 130-136.e8مصطلحات موضوعية: Adult, Genetic Markers, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Adolescent, Genotype, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], Physical examination, Severity of Illness Index, Young Adult, 03 medical and health sciences, Rating scale, Internal medicine, Scoring algorithm, Severity of illness, medicine, Humans, Young adult, Child, Physical Examination, Principal Component Analysis, medicine.diagnostic_test, business.industry, Regression analysis, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Glycogen Storage Disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, 030104 developmental biology, Phosphoglucomutase, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Regression Analysis, Female, business, Algorithms
وصف الملف: application/pdf
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17
المؤلفون: John R. Bell, David Ml Brown, Michael J. Thomsett, Janaki Shah, Andrew Cotterill, David Cowley, Mark Harris, Y. Jeske, Francis Bowling, Daphne Liaskou, Catherine S. Choong, Ristan M. Greer, Rosslyn M. Walker, Michelle M Jack
المصدر: Pediatric and Developmental Pathology. 10:25-34
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Genotype, medicine.medical_treatment, Nesidioblastosis, Compound heterozygosity, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, ABCC8, Pathology and Forensic Medicine, Pancreatectomy, Internal medicine, medicine, Humans, Regeneration, Potassium Channels, Inwardly Rectifying, Pancreas, ATP Binding Cassette Transporter, Subfamily G, Member 1, geography, geography.geographical_feature_category, biology, Infant, Newborn, Infant, General Medicine, medicine.disease, Islet, Pedigree, Phenotype, medicine.anatomical_structure, Endocrinology, Mutation, Pediatrics, Perinatology and Child Health, biology.protein, Congenital hyperinsulinism, ATP-Binding Cassette Transporters, Congenital Hyperinsulinism, Female, Hyperinsulinism
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18
المؤلفون: Kristen Gibbons, Francis Bowling, Avis McWhinney, Scott Petersen, Harold David McIntyre, Phillip Johnson, Paul A. Dawson, Robyn Rodwell
المصدر: BMC Pregnancy and Childbirth
مصطلحات موضوعية: Adult, Male, Human gestation, medicine.medical_specialty, Pregnancy Trimester, Third, Gestational Age, Urine, Cohort Studies, Excretion, Young Adult, chemistry.chemical_compound, Sex Factors, Pregnancy, Reference Values, Internal medicine, Obstetrics and Gynaecology, medicine, Humans, Sulfate, Sulfatemia, Creatinine, Fetus, Sulfates, business.industry, Maternal sulfate levels, Infant, Newborn, Obstetrics and Gynecology, Gestational age, Cord blood, Chromatography, Ion Exchange, Fetal Blood, medicine.disease, Pregnancy Trimester, First, Endocrinology, chemistry, Pregnancy Trimester, Second, Gestation, Female, business, Research Article
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19
المؤلفون: Diane Payton, Ram Suppiah, Andrew Cotterill, Peter Borzi, Francis Bowling, Nicholas D. Balazs, Peter J. Fuller, Richard C. Brown, Y. Jeske, Simon Chu, Catherine S. Choong, David Robertson, Henry G. Burger
المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:49-56
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Puberty, Precocious, Ovary, Biology, Polymerase Chain Reaction, Biochemistry, Sertoli-Leydig Cell Tumor, Endocrinology, Leuprorelin, Internal medicine, Biomarkers, Tumor, medicine, Humans, Precocious puberty, Inhibins, RNA, Messenger, Fallopian Tubes, Progesterone, Tumor marker, Ovarian Neoplasms, Leydig cell, Biochemistry (medical), luteinizing hormone/choriogonadotropin receptor, Androstenedione, Infant, Receptors, LH, medicine.disease, medicine.anatomical_structure, Receptors, FSH, Female, Luteinizing hormone, Sequence Analysis, medicine.drug
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20
المؤلفون: Francis Bowling, Kevin J Hourigan
المصدر: Journal of Gastroenterology and Hepatology. 16:1138-1143
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Alcoholic liver disease, Urban Population, Private Practice, Asymptomatic, Liver disease, Liver Function Tests, Internal medicine, Epidemiology, medicine, Humans, Liver Diseases, Alcoholic, Aged, Retrospective Studies, Hepatology, medicine.diagnostic_test, business.industry, Australia, Gastroenterology, Retrospective cohort study, Middle Aged, medicine.disease, Surgery, Private practice, Female, medicine.symptom, business, Liver function tests
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