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1دورية أكاديمية
المؤلفون: Nihal Almenabawy, Shalini Bahl, Alyssa-Lyn Ostlund, Shailly Ghai-Jain, Iveta Sosova, Alicia Chan, Saadet Mercimek-Andrews
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101055- (2024)
مصطلحات موضوعية: Classic galactosemia, Clinical variant galactosemia, Variant Duarte galactosemia, GALT, Galactose-1-phosphate uridyltransferase, Newborn screening, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Mitochondrial long-chain fatty acid oxidation, Carnitine metabolism defects, Medium chain triglycerides, Long-chain fat restricted diet, Newborn screening, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
مصطلحات موضوعية: Cerebral creatine deficiency syndromes, Creatine, Guanidinoacetate, Global developmental delay, Epilepsy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Grace Silver, Shalini Bahl, Dawn Cordeiro, Abhinav Thakral, Taryn Athey, Saadet Mercimek-Andrews
المصدر: Genes, Vol 12, Iss 8, p 1227 (2021)
مصطلحات موضوعية: epilepsy, seizures, global developmental delay, congenital disorders of glycosylation, transferrin isoelectric focusing, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Shalini Bahl, George R. Milne, Elizabeth G. Miller
المصدر: Wiley Blackwell, Journal of Consumer Affairs. 57(2):699-720
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6دورية أكاديمية
المؤلفون: Shalini Bahl, George R. Milne, Kunal Swani
المصدر: Wiley Blackwell, Journal of Consumer Affairs. 57(2):821-847
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7
المؤلفون: Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
المصدر: American Journal of Medical Genetics Part A. 191:510-517
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: Steven S. Chan, Michelle Van Solt, Ryan E. Cruz, Matthew Philp, Shalini Bahl, Nuket Serin, Nelson Borges Amaral, Robert Schindler, Abbey Bartosiak, Smriti Kumar, Murad Canbulut
المصدر: Journal of Consumer Affairs. 56:1312-1331
مصطلحات موضوعية: Sociology and Political Science, General Economics, Econometrics and Finance
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9دورية أكاديمية
المؤلفون: Steven S. Chan, Michelle Van Solt, Ryan E. Cruz, Matthew Philp, Shalini Bahl, Nuket Serin, Nelson Borges Amaral, Robert Schindler, Abbey Bartosiak, Smriti Kumar, Murad Canbulut
المصدر: Wiley Blackwell, Journal of Consumer Affairs. 56(3):1312-1331
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10
المؤلفون: Taryn B. T. Athey, Dawn Cordeiro, Shalini Bahl, Saadet Mercimek-Andrews, Abhinav Thakral, Grace Silver
المصدر: Genes, Vol 12, Iss 1227, p 1227 (2021)
Genes
Volume 12
Issue 8مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, global developmental delay, QH426-470, Article, Epilepsy, Liver Function Tests, medicine, Prevalence, Genetics, Humans, Global developmental delay, Child, Genetics (clinical), Retrospective Studies, seizures, chemistry.chemical_classification, Valproic Acid, business.industry, Isoelectric focusing, Transferrin, transferrin isoelectric focusing, Retrospective cohort study, medicine.disease, Test (assessment), Exact test, chemistry, Child, Preschool, epilepsy, Anticonvulsants, Female, Isoelectric Focusing, business, medicine.drug, congenital disorders of glycosylation
وصف الملف: application/pdf