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1دورية أكاديمية
المؤلفون: Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer
المصدر: Biomarker Insights, Vol 17 (2022)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1177-2719Test
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المؤلفون: An N. Dang Do, Irene J. Chang, Xutian Jiang, Lynne A. Wolfe, Bobby G. Ng, Christina Lam, Rhonda E. Schnur, Katrina Allis, Hana Hansikova, Nina Ondruskova, Shawn D. O'Connor, Amarilis Sanchez‐Valle, Arve Vollo, Raymond Y. Wang, Zoe Wolfenson, John Perreault, Daniel S. Ory, Hudson H. Freeze, J. Lawrence Merritt, Forbes D. Porter
المصدر: Journal of inherited metabolic disease, vol 46, iss 2
J Inherit Metab Disمصطلحات موضوعية: bile acids, Pediatric, Genetics & Heredity, Vacuolar Proton-Translocating ATPases, Glycosylation, Hydrolases, Liver Disease, Clinical Sciences, Infant, Oxysterols, Niemann-pick type C, Type C, Article, Bile Acids and Salts, Congenital Disorders of Glycosylation, N-palmitoyl-O-phosphocholineserine, Clinical Research, Niemann-Pick Disease, Genetics, Humans, Child, Digestive Diseases, Genetics (clinical), ATP6AP1
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a1fe60093ec40cb5561491e1ea6d777Test
https://escholarship.org/uc/item/39n7s551Test -
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المؤلفون: An N. Dang Do, Audrey E. Thurm, Cristan A. Farmer, Ariane G. Soldatos, Colby E. Chlebowski, Julie K. O'Reilly, Forbes D. Porter
المصدر: Am J Med Genet A
مصطلحات موضوعية: Adult, Male, Membrane Glycoproteins, Adolescent, Neuropsychological Tests, Article, Cohort Studies, Young Adult, Cross-Sectional Studies, Neuronal Ceroid-Lipofuscinoses, Genetics, Humans, Female, Prospective Studies, Child, Genetics (clinical), Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb410ff45c210e0fb4158eba352dc1bTest
https://doi.org/10.1002/ajmg.a.62607Test -
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المؤلفون: Joan C. Marini, Jack A. Yanovski, James C. Reynolds, Mark A. Ahlman, Marianne Knue, Sara Talvacchio, An N Dang Do, Kaitlin L Ballenger, Nicol Tugarinov
المصدر: J Clin Endocrinol Metab
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Context (language use), Biochemistry, Body Mass Index, Fat mass, Young Adult, Absorptiometry, Photon, Endocrinology, Internal medicine, Genotype, medicine, Humans, Resting energy expenditure, Child, Online Only Articles, Clinical phenotype, Clinical Research Articles, Adiposity, Osteoblasts, business.industry, Biochemistry (medical), Cell Differentiation, Middle Aged, Osteogenesis Imperfecta, medicine.disease, Healthy Volunteers, Energy expenditure, Osteogenesis imperfecta, Case-Control Studies, Lean body mass, Female, Basal Metabolism, Collagen, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06d0251b6e51a71204fbcda0cd0ec19dTest
https://doi.org/10.1210/clinem/dgab679Test -
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المؤلفون: An N. Dang Do, Eva H. Baker, Cristan A. Farmer, Ariane G. Soldatos, Audrey E. Thurm, Forbes D. Porter
المصدر: Molecular Genetics and Metabolism. 139:107584
مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::90d31d44986c7105b4864f8976e1cd3cTest
https://doi.org/10.1016/j.ymgme.2023.107584Test -
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المؤلفون: Gina Norato, William H. Theodore, Audrey Thurm, An N Dang Do, Sara K. Inati, Eva H. Baker, Myriam Abdennadher, Bibiana Bielekova, Ariane Soldatos, Ruturaj R. Masvekar, Luca Bartolini, Forbes D. Porter
المصدر: Journal of Inherited Metabolic Disease. 44:1013-1020
مصطلحات موضوعية: Male, In vivo magnetic resonance spectroscopy, medicine.medical_specialty, Batten disease, Adolescent, Electroencephalography, Severity of Illness Index, Gastroenterology, Cohort Studies, 03 medical and health sciences, Neuronal Ceroid-Lipofuscinoses, Seizures, Internal medicine, Genetics, medicine, Humans, Tonic (music), Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Membrane Glycoproteins, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Glutamate receptor, medicine.disease, Glutamine, Phenotype, CLN3, Child, Preschool, Cohort, Female, business, Biomarkers, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdff94c418cdd93afa511416d734f6e0Test
https://doi.org/10.1002/jimd.12366Test -
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المؤلفون: Jordan Wickstrom, Audrey Thurm, Dylan Hammond, Ariane Soldatos, An N Dang Do, Hanna Hildenbrand, Rebecca Parks, Forbes D. Porter, Kisha Jenkins, Katharine E. Alter, Thuy-Tien Nguyen, Cris Zampieri, Jesse Matsubara
المصدر: Am J Med Genet A
مصطلحات موضوعية: Occupational therapy, medicine.medical_specialty, Activities of daily living, Adolescent, medicine.medical_treatment, Motor Disorders, Population, Visual Acuity, Context (language use), Article, Upper Extremity, Physical medicine and rehabilitation, Activities of Daily Living, Genetics, Humans, Medicine, Cognitive Dysfunction, Cognitive decline, Child, education, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Rehabilitation, business.industry, Cognition, Child, Preschool, Computerized adaptive testing, business, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2110dd5183847fec9455a81a499de0a1Test
https://doi.org/10.1002/ajmg.a.62114Test -
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المؤلفون: An N. Dang Do, Joan C. Marini
المصدر: Cassidy and Allanson's Management of Genetic Syndromes. :683-705
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::88321f16ff008d244eff13d1598a17d1Test
https://doi.org/10.1002/9781119432692.ch43Test -
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المؤلفون: Joan C. Marini, An N Dang Do, Richard W. Kruse, Brandi M. Sargent, Jeanne M. Franzone, Marianne Knue
المصدر: JBJS case connector. 11(3)
مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Adolescent, Long bone, Functional impact, law.invention, Intramedullary rod, law, Left femur, medicine, Humans, Orthopedics and Sports Medicine, Femur, Cortical atrophy, business.industry, Stress shielding, Osteogenesis Imperfecta, medicine.disease, Internal Fixators, Surgery, Femoral Artery, medicine.anatomical_structure, Lower Extremity, Osteogenesis imperfecta, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0345c563683f10c53eb55c8ee26276cTest
https://pubmed.ncbi.nlm.nih.gov/34297706Test -
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المؤلفون: Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer
المصدر: Biomarker Insights. 17:117727192211077
مصطلحات موضوعية: Pharmacology, Biochemistry (medical), Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5d4e67960acf1e5009dcb0c3fc7e1e6cTest
https://doi.org/10.1177/11772719221107765Test