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المؤلفون: Roya Mostafavi, M. Mahdi Motazacker, Julie M. Gastier-Foster, Cheryl Garganta, Kristen V. Truxal, Eline Overwater, Mieke M. van Haelst, Eniko K. Pivnick, Laurence E. Walsh, Valerie J. Castelluccio, Elizabeth S. Barrie, Erin Crist, Tara Chandra Narumanchi, Asim F. Choudhri
المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, ACS - Pulmonary hypertension & thrombosis
المصدر: American Journal of Medical Genetics, Part A, 182(5), 1201-1208. Wiley-Liss Inc.
Barrie, E S, Overwater, E, van Haelst, M M, Motazacker, M M, Truxal, K V, Crist, E, Mostafavi, R, Pivnick, E K, Choudhri, A F, Narumanchi, T C, Castelluccio, V, Walsh, L E, Garganta, C & Gastier-Foster, J M 2020, ' Expanding the spectrum of CEP55-associated disease to viable phenotypes ', American Journal of Medical Genetics, Part A, vol. 182, no. 5, pp. 1201-1208 . https://doi.org/10.1002/ajmg.a.61512
American journal of medical genetics. Part A, 182(5), 1201-1208. Wiley-Liss Inc.مصطلحات موضوعية: Genetics, Microcephaly, media_common.quotation_subject, Pachygyria, Nonsense, Lissencephaly, Biology, Hydranencephaly, medicine.disease, Compound heterozygosity, Meckel-like syndrome, medicine, Missense mutation, CEP55, Cerebellar hypoplasia, Genetics (clinical), MARCH syndrome, media_common
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المؤلفون: Sonja A. Rasmussen, Cheryl Garganta, Lindsay A. Thompson
المصدر: JAMA Pediatrics. 175:984
مصطلحات موضوعية: Parents, medicine.medical_specialty, Newborn screening, medicine.diagnostic_test, business.industry, Infant, Newborn, Hearing screening, Pulse oximetry, Neonatal Screening, Need to know, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Humans, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd3628fc290bebf424513ec4cd07170
https://doi.org/10.1001/jamapediatrics.2021.1519 -
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المؤلفون: Cheryl Garganta, James S. Ware, George A. Bray, Jason Nelson, Konstantinos-Dionysios Alysandratos, Bess Dawson-Hughes, David M. Nathan, Frank B. Hu, Lisa Ceglia, Anastassios G. Pittas
المصدر: European Journal of Nutrition. 56:161-170
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Intra-Abdominal Fat, Medicine (miscellaneous), 030209 endocrinology & metabolism, Type 2 diabetes, Bioinformatics, Biochemistry, Article, Body Mass Index, Prediabetic State, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Internal medicine, Diabetes mellitus, medicine, Vitamin D and neurology, Humans, Longitudinal Studies, Obesity, Prediabetes, Vitamin D, Life Style, Adiposity, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, Body Weight, Middle Aged, medicine.disease, Subcutaneous Fat, Abdominal, Cross-Sectional Studies, Endocrinology, Diabetes Mellitus, Type 2, Body Composition, Linear Models, Female, Seasons, Waist Circumference, medicine.symptom, business, Body mass index, Follow-Up Studies, Food Science
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المؤلفون: Joanna Mitri, Frank B. Hu, Robin Ruthazer, David M. Nathan, Cheryl Garganta, Jason Nelson, Bess Dawson-Hughes, Anastassios G. Pittas
المصدر: European Journal of Clinical Nutrition. 68:376-383
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cross-sectional study, Medicine (miscellaneous), Article, Insulin resistance, Risk Factors, Internal medicine, Diabetes mellitus, Prevalence, polycyclic compounds, Vitamin D and neurology, Humans, Medicine, Vitamin D, Life Style, Randomized Controlled Trials as Topic, Metabolic Syndrome, Nutrition and Dietetics, business.industry, Life style, Incidence, Fasting, Middle Aged, medicine.disease, Obesity, United States, Cross-Sectional Studies, Endocrinology, Female, Insulin Resistance, Waist Circumference, Metabolic syndrome, business, Body mass index
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المؤلفون: Anastassios G. Pittas, Bess Dawson-Hughes, David M. Nathan, Joanna Mitri, Jason Nelson, William Hillmann, Cheryl Garganta, Frank B. Hu
المصدر: Diabetes Care
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Diabetes risk, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Lower risk, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Risk Factors, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Vitamin D and neurology, Diabetes Mellitus, Humans, 030212 general & internal medicine, Prediabetes, Prospective Studies, Epidemiology/Health Services Research, Vitamin D, Prospective cohort study, Original Research, Proportional Hazards Models, Randomized Controlled Trials as Topic, Advanced and Specialized Nursing, business.industry, Hazard ratio, Middle Aged, medicine.disease, 3. Good health, Physical therapy, Female, medicine.symptom, business
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المصدر: JIMD Reports ISBN: 9783662543849
مصطلحات موضوعية: 0301 basic medicine, Newborn screening, business.industry, Choreoathetosis, Cardiomyopathy, Disease, Bioinformatics, medicine.disease, Hypotonia, Article, HSD17B10, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine, medicine.symptom, business, 030217 neurology & neurosurgery, 3q29 microduplication, Urine organic acids
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6d833586531c76a02d650dc81590ab
https://pubmed.ncbi.nlm.nih.gov/27295195 -
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المؤلفون: Annapurna Poduri, John N. Gaitanis, Jennifer N. Partlow, Chiara Pantaleoni, Vida Chitsazzadeh, Bernard S. Chang, Mustafa Sahin, Daria Riva, Adre Duplessis, Ermellina Fedrizzi, Kira A. Dies, Meral Topçu, Stefano D'Arrigo, A. James Barkovich, Christopher A. Walsh, Claudia Busse, Helmut Küster, Cheryl Garganta, Brenda J. Barry
المصدر: Brain and Development. 32:550-555
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Lower motor neuron, Article, Young Adult, Epilepsy, Developmental Neuroscience, Neuroimaging, medicine, Polymicrogyria, Humans, Child, Muscle contracture, Arthrogryposis, Arthrogryposis multiplex congenita, Brain, Infant, Electroencephalography, Syndrome, General Medicine, medicine.disease, Perisylvian polymicrogyria, Malformations of Cortical Development, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Psychology
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المؤلفون: Cary O. Harding, Cheryl Garganta, Can Ficicioglu, Barbara K. Burton, Stephen D. Cederbaum, Georgianne L. Arnold, Annette Feigenbaum, Johan L.K. Van Hove, Arnold W. Strauss, Dietrich Matern, Debra Freedenberg, Nicola Longo, Pranesh Chakraborty, Richard G. Boles
المصدر: Molecular Genetics and Metabolism. 96:85-90
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Delphi Technique, Endocrinology, Diabetes and Metabolism, Delphi method, MEDLINE, Biochemistry, Lipid Metabolism, Inborn Errors, Very Long-Chain Acyl-CoA Dehydrogenase Deficiency, law.invention, Endocrinology, Clinical Protocols, Randomized controlled trial, law, Genetics, medicine, Humans, Disease management (health), Molecular Biology, Randomized Controlled Trials as Topic, Protocol (science), Newborn screening, business.industry, Acyl-CoA Dehydrogenase, Long-Chain, Dietary management, Disease Management, Infant, Female, business
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المؤلفون: Charles B. Eaton, Lori Lyn Price, Kent Kwoh, Bing Lu, Michael C. Nevitt, Cheryl Garganta, Sarah L. Booth, Jeffrey B. Driban, Fang Fang Zhang, Marc C. Hochberg, Timothy E. McAlindon, Becky Jackson, Grace H. Lo
المصدر: The Journal of nutrition, vol 144, iss 12
مصطلحات موضوعية: Male, Aging, Knee Joint, Medicine (miscellaneous), Parathyroid hormone, Osteoarthritis, Gastroenterology, Risk Factors, Nutritional Epidemiology, Longitudinal Studies, Vitamin D, education.field_of_study, Nutrition and Dietetics, Pain Research, Osteoarthritis, Knee, Middle Aged, musculoskeletal system, Parathyroid Hormone, Disease Progression, Female, Chronic Pain, hormones, hormone substitutes, and hormone antagonists, musculoskeletal diseases, medicine.medical_specialty, Joint space narrowing, Population, Clinical Trials and Supportive Activities, vitamin D deficiency, knee osteoarthritis, Food Sciences, Animal Production, Clinical Research, Internal medicine, Complementary and Integrative Health, Vitamin D and neurology, medicine, Humans, parathyroid hormone, Knee, education, Aged, Nutrition, Nutrition & Dietetics, business.industry, Arthritis, Prevention, medicine.disease, Vitamin D Deficiency, joint space narrowing, Surgery, Increased risk, Logistic Models, Musculoskeletal, progression, business, human activities, Follow-Up Studies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::922322b4af71a7372451e82a3c2d1bd7
https://escholarship.org/uc/item/8xz5g1zt -
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المؤلفون: Nancy Braverman, Parul Jayakar, Cheryl Garganta, Marlene W Borschel, S. Harvey Mudd, Shawn E. McCandless, Conrad Wagner, Martin G. Pomper, Mary G. Ampola, Kamer Tezcan, Sally P. Stabler, Jonathan B. Kronick, Hobart E. Wiltse, Harvey L. Levy, Robert H. Allen
المصدر: Molecular Genetics and Metabolism. 79:6-16
مصطلحات موضوعية: Male, medicine.medical_specialty, Hyperhomocysteinemia, Homocysteine, Endocrinology, Diabetes and Metabolism, Brain Edema, Biochemistry, Cerebral edema, chemistry.chemical_compound, Methionine, Endocrinology, Internal medicine, Genetics, medicine, Humans, Ingestion, Infant Nutritional Physiological Phenomena, Molecular Biology, biology, business.industry, Infant, Newborn, Infant, medicine.disease, Magnetic Resonance Imaging, Cystathionine beta synthase, medicine.anatomical_structure, chemistry, Cerebral cortex, Food, Fortified, biology.protein, Female, Infant Food, Hypermethioninemia, business
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