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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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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
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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
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::54210e104b3ff5fc66f14024f4e3c91b
https://doi.org/10.1101/2020.09.19.303826 -
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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
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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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c57be9cf6fe6409d1d98b65ffc2775b
https://doi.org/10.1016/j .ymgme.2017.08.012 -
8كتاب إلكتروني
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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
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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