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1دورية أكاديمية
المؤلفون: Yuliya Mints, Hirad Yarmohammadi, Irfan M. Khurram, Hana Hoyt, Rozann Hansford, Stefan L. Zimmerman, Steven J. Steinberg, Daniel P. Judge, Gordon F. Tomaselli, Hugh Calkins, Vadim Zipunnikov, Saman Nazarian
المصدر: Clinical Medicine Insights: Cardiology, Vol 2015, Iss 9, Pp 39-45 (2015)
مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2
المؤلفون: Ann B. Moser, Nancy Braverman, Yanqiu Liu, Ali Fatemi, Shandi Hiebler, Ulrike Schrifl, Paul A. Watkins, Xiaohai Shi, Steven J. Steinberg
المصدر: J Cell Biochem
مصطلحات موضوعية: 0301 basic medicine, Drug, endocrine system, media_common.quotation_subject, Genetic enhancement, Primary Cell Culture, Pharmacology, ATP Binding Cassette Transporter, Subfamily D, Member 1, Biochemistry, Article, Mice, 03 medical and health sciences, 0302 clinical medicine, Irbesartan, Drug Discovery, Animals, Humans, Medicine, Adrenoleukodystrophy, Fibroblast, Molecular Biology, Antihypertensive Agents, media_common, Mice, Knockout, business.industry, Fatty Acids, Hematopoietic stem cell, Cell Biology, Fibroblasts, medicine.disease, High-Throughput Screening Assays, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Peripheral neuropathy, Cell culture, 030220 oncology & carcinogenesis, Mutation, lipids (amino acids, peptides, and proteins), business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ce4700490ef190546392aabc4c4af17Test
https://doi.org/10.1002/jcb.30014Test -
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المؤلفون: Lisa E. Kratz, Kristina Cusmano-Ozog, Irene De Biase, Nancy Braverman, Silvia Tortorelli, Steven J. Steinberg
المصدر: Genetics in Medicine. 22:686-697
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Computational biology, 030105 genetics & heredity, Peroxisome, medicine.disease, Human genetics, 03 medical and health sciences, 030104 developmental biology, Peroxisomal disorder, medicine, Medical genetics, Adrenoleukodystrophy, Sample collection, business, Exome, Genetics (clinical), Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b07777ca5e4b9068964d1a7a42782d3Test
https://doi.org/10.1038/s41436-019-0713-9Test -
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المؤلفون: Sarah Fogarty, Ilka Wittig, Steven P. Gygi, Steven J. Steinberg, Jared Rutter, Katie J. Clowers, J. Alan Maschek, Catherine Argyriou, Chelsea U Kidwell, James E. Cox, Jeffrey T. Morgan, Yu-Chan Chen, Minna Roh-Johnson, Lingxiao Chen, Jordan A. Berg, Jacob M. Winter, Esther Nuebel, Nancy Braverman, Sandra Lettlova
مصطلحات موضوعية: Translational efficiency, Peroxin, Disease, Biology, Peroxisome, Inner mitochondrial membrane, Phenotype, Gene, Function (biology), Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54210e104b3ff5fc66f14024f4e3c91bTest
https://doi.org/10.1101/2020.09.19.303826Test -
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المؤلفون: Irene, De Biase, Silvia, Tortorelli, Lisa, Kratz, Steven, J Steinberg, Kristina, Cusmano-Ozog, Nancy, Braverman
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(4)
مصطلحات موضوعية: Peroxisomal Disorders, Clinical Laboratory Techniques, Genetics, Medical, Infant, Newborn, Humans, Genomics, Reference Standards, United States
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::7ff456b7ea73ab82c4a7ddcae51aa661Test
https://pubmed.ncbi.nlm.nih.gov/31822849Test -
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المؤلفون: John J Ely, Florian Eichler, Joseph G. Hacia, Steven J. Steinberg, Ann Snowden, Julian Curiel, Holly Dubbs, Ann B. Moser, Adeline Vanderver, Sarah Bright, Alisa D. Gean, Jocelyn Bezner
المصدر: Molecular Genetics and Metabolism. 122:130-133
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, Pathology, medicine.medical_specialty, Pan troglodytes, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biology, Corpus callosum, ATP Binding Cassette Transporter, Subfamily D, Member 1, Biochemistry, White matter, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Coenzyme A Ligases, Genetics, medicine, Animals, Humans, Age of Onset, Adrenoleukodystrophy, Molecular Biology, Genetic Association Studies, medicine.diagnostic_test, Leukodystrophy, Genetic disorder, Brain, Magnetic resonance imaging, Sequence Analysis, DNA, medicine.disease, Lipids, Magnetic Resonance Imaging, Frontal Lobe, Phenotype, 030104 developmental biology, medicine.anatomical_structure, Frontal lobe, Mutation, Female, Age of onset, 030217 neurology & neurosurgery, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c57be9cf6fe6409d1d98b65ffc2775bTest
https://doi.org/10.1016Test/j .ymgme.2017.08.012 -
7دورية أكاديمية
المؤلفون: Steven J. Steinberg A, Gabriele Dodt, Gerald V. Raymond, Nancy E. Braverman, Ann B. Moser A, Hugo W. Moser A
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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8كتاب إلكتروني
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9
المؤلفون: Steven J. Steinberg, Panteha Saberian, Erminia Di Pietro, Ellen Crushell, Catherine Argyriou, Nancy Braverman, Yasmin D’Souza
المصدر: Molecular Genetics and Metabolism. 132:S164
مصطلحات موضوعية: Protein function, Endocrinology, Terminal (electronics), Chemistry, Endocrinology, Diabetes and Metabolism, Genetics, Zellweger Spectrum, PEX1, Molecular Biology, Biochemistry, Phenotype, Cell biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::58d953aeac9b0c046368137871589201Test
https://doi.org/10.1016/s1096-7192Test(21)00344-9 -
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المؤلفون: Alexa Dickson, Ann B. Moser, Jennifer L. Goldstein, Heather Baudet, Rong Mao, Sharon F. Suchy, Meredith A. Weaver, Nancy Braverman, Tatiana Yuzyuk, Jennifer McGlaughon, Gerald V. Raymond, Aurora Pujol, Shruthi Mohan, Lora J. H. Bean, Steven J. Steinberg, Irene De Biase, Megan Mayers
المصدر: Molecular Genetics and Metabolism. 132:S236
مصطلحات موضوعية: business.industry, Endocrinology, Diabetes and Metabolism, Bioinformatics, medicine.disease, Biochemistry, Strength of evidence, Endocrinology, Peroxisomal disorder, Genetics, Clinical validity, Medicine, business, Molecular Biology, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed16fe47b288cbc1f9020176dc5bbccTest
https://doi.org/10.1016/s1096-7192Test(21)00448-0