المؤلفون: Kali M. Pruss, Haoqing Chen, Yuanyuan Liu, William Van Treuren, Steven K. Higginbottom, John B. Jarman, Curt R. Fischer, Justin Mak, Beverly Wong, Tina M. Cowan, Michael A. Fischbach, Justin L. Sonnenburg, Dylan Dodd

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/14334ccffc5848da904c149209a88138

المؤلفون: Anthony T. Le, Manhong Wu, Afraz Khan, Nicholas Phillips, Pranav Rajpurkar, Megan Garland, Kayla Magid, Mamdouh Sibai, ChunHong Huang, Malaya K. Sahoo, Raffick Bowen, Tina M. Cowan, Benjamin A. Pinsky, Catherine A. Hogan

المصدر: Frontiers in Microbiology, Vol 13 (2023)

مصطلحات موضوعية: plasma, metabolomics, amino acids, SARS-CoV-2, COVID-19, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmicb.2022.1059289/full; https://doaj.org/toc/1664-302X

URL الوصول: https://doaj.org/article/55ea6145256d403298cf77d7ec3cfb0b

المؤلفون: Catherine A. Hogan, Pranav Rajpurkar, Hari Sowrirajan, Nicholas A. Phillips, Anthony T. Le, Manhong Wu, Natasha Garamani, Malaya K. Sahoo, Mona L. Wood, ChunHong Huang, Andrew Y. Ng, Justin Mak, Tina M. Cowan, Benjamin A. Pinsky

المصدر: EBioMedicine, Vol 71, Iss , Pp 103546- (2021)

مصطلحات موضوعية: Metabolomics, Mass spectrometry, Influenza, Diagnosis, Host response, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S235239642100339X; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/77b263630b5a4b0eb87ca9f66944bedb

المؤلفون: Christina G. Tise, Courtney P. Verscaj, Bryce A. Mendelsohn, Jeremy Woods, Chung U. Lee, Gregory M. Enns, Zinandré Stander, Patricia L. Hall, Tina M. Cowan, Kristina P. Cusmano‐Ozog

المصدر: American Journal of Medical Genetics Part A. 191:1492-1501

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bb9bb1894b9e8952590e50cbc09c66f1
https://doi.org/10.1002/ajmg.a.63159

المؤلفون: Gang Peng, Yishuo Tang, Tina M. Cowan, Hongyu Zhao, Curt Scharfe

المصدر: Frontiers in Pediatrics, Vol 8 (2021)

مصطلحات موضوعية: newborn screening, inborn errors of metabolism, age at blood collection, gestational age, sex, race and ethnicity, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2020.623184/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/264e76aa829e4c48af096e481a4e7963

المؤلفون: Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad

المصدر: PLoS Genetics, Vol 16, Iss 12, p e1009258 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/38ad2190625241eaa6c24799b3b7819a

المؤلفون: Justin Mak, Gang Peng, Anthony Le, Neeru Gandotra, Gregory M. Enns, Curt Scharfe, Tina M. Cowan

المصدر: Journal of Inherited Metabolic Disease. 46:194-205

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5042f3c2f4cca46668bd1199115627e9
https://doi.org/10.1002/jimd.12591

المؤلفون: Gang, Peng, Andrew J, Pakstis, Neeru, Gandotra, Tina M, Cowan, Hongyu, Zhao, Kenneth K, Kidd, Curt, Scharfe

المصدر: Molecular Genetics and Metabolism. 137:292-300

مصطلحات موضوعية: Neonatal Screening, Endocrinology, Tandem Mass Spectrometry, Endocrinology, Diabetes and Metabolism, Infant, Newborn, Genetics, Humans, Amino Acids, Molecular Biology, Biochemistry, Metabolism, Inborn Errors, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3af3c7dfe1fdf30abf3a269d957058db
https://doi.org/10.1016/j.ymgme.2022.10.002

المؤلفون: Tereza Moore, Rolando E Yanes, Melissa A Calton, Douglas Vollrath, Gregory M Enns, Tina M Cowan

المصدر: PLoS ONE, Vol 15, Iss 10, p e0240517 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/743c8b3b1cd748f48faba2d1f592c372

المؤلفون: Gang Peng, Yishuo Tang, Tina M. Cowan, Gregory M. Enns, Hongyu Zhao, Curt Scharfe

المصدر: International Journal of Neonatal Screening; Volume 6; Issue 1; Pages: 16

مصطلحات موضوعية: newborn screening, inborn metabolic disorders, tandem mass spectrometry, false positive, second-tier testing, machine learning, Random Forest

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/ijns6010016

الاتاحة: https://doi.org/10.3390/ijns6010016

المؤلفون: Jake Pritchett, Brett E Crawford, William F Mueller, Brandon Tan, Justin Mak, Selina Dwight, Eric Taylor, Brendan Beahm, Matt Wilsey, Lei Zhu, Tina M. Cowan, Thomas Wechsler

المصدر: The Journal of Biochemistry. 171:177-186

مصطلحات موضوعية: chemistry.chemical_classification, medicine.medical_specialty, business.industry, Surrogate endpoint, General Medicine, Urine, medicine.disease, Biochemistry, Alacrima, Peripheral neuropathy, Enzyme, Cerebrospinal fluid, Endocrinology, chemistry, Internal medicine, medicine, Biomarker (medicine), business, NGLY1, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8adf3f2352499627d9643ee70f2f305a
https://doi.org/10.1093/jb/mvab111

المؤلفون: Liliana Fernandez, Maura R.Z. Ruzhnikov, Ryan Gates, Matthew T. Wheeler, Vamsi V. Yarlagadda, Jonathan A. Bernstein, Peter Leahy, Gopal Pramanik, Jennifer C. Schymick, Gregory M. Enns, Tina M. Cowan, Chung Lee

المصدر: American Journal of Medical Genetics Part A. 188:473-487

مصطلحات موضوعية: business.industry, Long QT syndrome, Metabolic disorder, Encephalopathy, Exons, medicine.disease, Bioinformatics, Ketotic hypoglycemia, Rhabdomyolysis, Phenotype, Intellectual Disability, Lactic acidosis, Exome Sequencing, Intellectual disability, Genetics, medicine, Humans, business, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54e394b4a3c7f89ba4a7e46169a57af
https://doi.org/10.1002/ajmg.a.62543

المؤلفون: Anthony T. Le, Manhong Wu, Afraz Khan, Nicholas Phillips, Pranav Rajpurkar, Megan Garland, Kayla Magid, Mamdouh Sibai, ChunHong Huang, Malaya K. Sahoo, Raffick Bowen, Tina M. Cowan, Benjamin A. Pinsky, Catherine A. Hogan

مصطلحات موضوعية: Microbiology, Microbial Genetics, Microbial Ecology, Mycology, plasma, metabolomics, amino acids, SARS-CoV-2, COVID-19

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Targeted_plasma_metabolomics_combined_with_machine_learning_for_the_diagnosis_of_severe_acute_respiratory_syndrome_virus_type_2_pdf/22354030

الاتاحة: https://doi.org/10.3389/fmicb.2022.1059289.s001
https://figshare.com/articles/dataset/Data_Sheet_1_Targeted_plasma_metabolomics_combined_with_machine_learning_for_the_diagnosis_of_severe_acute_respiratory_syndrome_virus_type_2_pdf/22354030

المؤلفون: Anna-Kaisa Niemi, Candida Brown, Tereza Moore, Gregory M. Enns, Tina M. Cowan

المصدر: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 129-132 (2014)

مصطلحات موضوعية: SSADH, Oxidative stress, Glutathione, GSH, Mitochondria, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426914000214; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/14b9a82dbffb4ef2a753f704a34392ec

المؤلفون: Gregory M. Enns, Tina M. Cowan

المصدر: Journal of Clinical Medicine, Vol 6, Iss 5, p 50 (2017)

مصطلحات موضوعية: mitochondrial disease, glutathione, redox imbalance, EPI-743, N-acetylcysteine, RP103, cysteamine, Medicine

Relation: http://www.mdpi.com/2077-0383/6/5/50; https://doaj.org/toc/2077-0383; https://doaj.org/article/7c63a279915741fdb2aaa69191a4750c

الاتاحة: https://doi.org/10.3390/jcm6050050
https://doaj.org/article/7c63a279915741fdb2aaa69191a4750c

المؤلفون: ChunHong Huang, Andrew Y. Ng, Natasha Garamani, Manhong Wu, Tina M. Cowan, Mona Wood, Benjamin A. Pinsky, Hari Sowrirajan, Malaya K. Sahoo, Catherine A. Hogan, Nick A. Phillips, Justin Mak, Anthony Le, Pranav Rajpurkar

المصدر: EBioMedicine
EBioMedicine, Vol 71, Iss, Pp 103546-(2021)

مصطلحات موضوعية: Adult, Male, Medicine (General), Adolescent, Metabolite, Machine learning, computer.software_genre, General Biochemistry, Genetics and Molecular Biology, Gas Chromatography-Mass Spectrometry, Machine Learning, chemistry.chemical_compound, R5-920, Diagnosis, Influenza, Human, Host response, Medicine, Metabolomics, Humans, Biomarker discovery, Respiratory system, Prospective cohort study, Child, Receiver operating characteristic, Mass spectrometry, business.industry, General Medicine, Orthomyxoviridae, Confidence interval, Influenza, Pyrrolidonecarboxylic Acid, Nasal Mucosa, chemistry, Molecular Diagnostic Techniques, Child, Preschool, Metabolome, Respiratory virus, Biomarker (medicine), Female, Artificial intelligence, business, computer, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e2705d02fb67da4abb203fa93cb5e6f
http://europepmc.org/articles/PMC8385175

المؤلفون: Gregory M Enns, Tereza Moore, Anthony Le, Kondala Atkuri, Monisha K Shah, Kristina Cusmano-Ozog, Anna-Kaisa Niemi, Tina M Cowan

المصدر: PLoS ONE, Vol 9, Iss 6, p e100001 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4062483?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/7aabf3dc50c04553ab6ccfefee5d05ed

المؤلفون: Justin Mak, Tina M. Cowan

المصدر: Mol Genet Metab

مصطلحات موضوعية: Glycan, Resolution (mass spectrometry), Endocrinology, Diabetes and Metabolism, Biochemistry, Article, Endocrinology, Glycolipid, Metabolomics, Liquid chromatography–mass spectrometry, Tandem Mass Spectrometry, Sphingolipidoses, Genetics, medicine, Humans, Biomarker discovery, Molecular Biology, Glycomics, Chromatography, biology, Chemistry, Infant, Newborn, Infant, medicine.disease, Dried blood spot, Lysosomal Storage Diseases, Child, Preschool, biology.protein, Dried Blood Spot Testing, Biomarkers, Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5053a2d32e2231b245c0a1e837ef09d5
https://europepmc.org/articles/PMC9069563/

المؤلفون: Gang Peng, Yishuo Tang, Tina M. Cowan, Hongyu Zhao, Curt Scharfe

المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 8 (2021)

مصطلحات موضوعية: 0301 basic medicine, Metabolite, Birth weight, Methylmalonic acidemia, Physiology, inborn errors of metabolism, 030105 genetics & heredity, race and ethnicity, Pediatrics, age at blood collection, Carnitine transport, 03 medical and health sciences, chemistry.chemical_compound, Disease Screening, Medicine, sex, gestational age, Newborn screening, business.industry, newborn screening, lcsh:RJ1-570, Gestational age, nutritional and metabolic diseases, lcsh:Pediatrics, Brief Research Report, medicine.disease, Isovaleric Acidemia, 030104 developmental biology, chemistry, Pediatrics, Perinatology and Child Health, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771ccd0a5d71fcca51af1018a41a9efb
https://pubmed.ncbi.nlm.nih.gov/33553077

المؤلفون: Sara M Thomasy, Lionel Sebbag, Bret A. Moore, Tamer A. Mansour, Danika L. Bannasch, Devin Ancona, Tina M. Cowan, Haitham Seada, Miriam Aguilar, Karen L. Vernau, Kevin D. Woolard, Marguerite Knipe, C. Titus Brown

المصدر: Scientific reports, vol 10, iss 1
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Genetic testing, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis, Mucopolysaccharidosis I, Metabolic disorders, Boston Terrier, lcsh:Medicine, Biology, Neurodegenerative, Article, 03 medical and health sciences, 0302 clinical medicine, Dogs, Rare Diseases, Genetics research, Lysosomal storage disease, medicine, Genetics, Animals, 2.1 Biological and endogenous factors, Allele, Aetiology, lcsh:Science, Animal breeding, Whole genome sequencing, Multidisciplinary, medicine.diagnostic_test, Base Sequence, Whole Genome Sequencing, Disease genetics, lcsh:R, Human Genome, Neurosciences, medicine.disease, Breed, Brain Disorders, Experimental models of disease, 030104 developmental biology, Mutation (genetic algorithm), Mutation, Next-generation sequencing, lcsh:Q, Female, 030217 neurology & neurosurgery, Neurological disorders

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::573f3ba7b4005f1131d72230b58b88a5
https://escholarship.org/uc/item/6vz1p6dw