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1دورية أكاديمية
المؤلفون: Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta
المصدر: eLife, Vol 12 (2023)
مصطلحات موضوعية: myopathy, ubiquitylation, skeletal muscle, genetic disease, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev, Joseph Leslie, Djenann Saint-Dic, Valeed Khan, Ana Maria Hincapie, Jacob O Day, Lucy McGavin, Christine Rowley, Gaurav V Harlalka, Valerie E Vancollie, Wasim Ahmad, Christopher J Lelliott, Asma Gul, Binnaz Yalcin, Andrew H Crosby, Michael Sacher, Emma L Baple
المصدر: PLoS Genetics, Vol 18, Iss 3, p e1010114 (2022)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Austin A. Larson, Peter R. Baker, Miroslav P. Milev, Craig A. Press, Ronald J. Sokol, Mary O. Cox, Jacqueline K. Lekostaj, Aaron A. Stence, Aaron D. Bossler, Jennifer M. Mueller, Keshika Prematilake, Thierry Fotsing Tadjo, Charles A. Williams, Michael Sacher, Steven A. Moore
المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: TRAPPC11, GOSR2, Golgi, Dystroglycanopathy, Dystroglycan, Muscular dystrophy, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13395-018-0163-0Test; https://doaj.org/toc/2044-5040Test
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4دورية أكاديمية
المؤلفون: Sameh Saad Ali, Günter Grampp, Stephan Landgraf, Michael Sacher
المصدر: International Journal of Photoenergy, Vol 1, Iss 3, Pp 177-181 (1999)
مصطلحات موضوعية: Renewable energy sources, TJ807-830
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1110-662XTest
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5دورية أكاديميةCallosal and Diffuse White Matter Lesions with Restricted Water Diffusion in Hemophagocytic Syndrome
المؤلفون: Girish FATTERPEKAR, Kumiko ANDO, Michael SACHER, Noriaki OKAMOTO, Reiichi ISHIKURA, Shozo HIROTA
المصدر: Magnetic Resonance in Medical Sciences. 2010, 9(2):91
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المصدر: Journal of inherited metabolic disease.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b76752cecf0b8ddcd56887765d760eTest
https://pubmed.ncbi.nlm.nih.gov/36502486Test -
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المؤلفون: Christina Y. Miyake, Erica J. Lay, Claudia Soler-Alfonso, Kevin E. Glinton, Kimberly M. Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam Pham, Santiago O. Valdes, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J. Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics.
مصطلحات موضوعية: Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d345a9d911a39f54eda35b4a1e4e61fTest
https://pubmed.ncbi.nlm.nih.gov/36473599Test -
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المؤلفون: Khashayar Zardoui, Christopher Law, Thomas Klopstock, Miroslav P. Milev, Felix Distelmaier, Djenann Saint-Dic, Michael Sacher
المصدر: Journal of Inherited Metabolic Disease 44(2), 426-437 (2021). doi:10.1002/jimd.12312
مصطلحات موضوعية: Cell, Golgi Apparatus, Mitochondrion, Endoplasmic Reticulum, Rhabdomyolysis, metabolism [Endoplasmic Reticulum], Golgi, Exome, Genetics (clinical), 0303 health sciences, 030305 genetics & heredity, genetics [Rhabdomyolysis], Phenotype, Mitochondria, Pedigree, Cell biology, mitochondria, Protein Transport, medicine.anatomical_structure, Lactic acidosis, symbols, TANGO2, metabolism [Fibroblasts], membrane traffic, Biology, metabolism [Golgi Apparatus], cardiac arrhythmia, 03 medical and health sciences, symbols.namesake, Genetics, medicine, Humans, Genetic Predisposition to Disease, 030304 developmental biology, Endoplasmic reticulum, Aryl Hydrocarbon Receptor Nuclear Translocator, Arrhythmias, Cardiac, Fibroblasts, Golgi apparatus, metabolism [Mitochondria], medicine.disease, genetics [Arrhythmias, Cardiac], Mutation, rhabdomyolysis, genetics [Mitochondria], genetics [Aryl Hydrocarbon Receptor Nuclear Translocator], Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac828f95d1e6c1d0571189e0b1a8b7fTest
https://doi.org/10.1002/jimd.12312Test -
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المؤلفون: Priyanka Ahimaz, Yufeng Sheng, Jacob J. Hagen, Wendy K. Chung, Michael Sacher, Zaheer Valivullah, Volkan Okur, Mythily Ganapathi, Miroslav P. Milev, Noraldin Al-Deri
المصدر: J Med Genet
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Protein subunit, DNA Mutational Analysis, Vesicular Transport Proteins, Article, Structure-Activity Relationship, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Amino Acid Sequence, Global developmental delay, Age of Onset, Alleles, Genetic Association Studies, Genetics (clinical), Whole genome sequencing, biology, Homozygote, Membrane Transport Proteins, Golgi apparatus, medicine.disease, Phenotype, Pedigree, 030104 developmental biology, TRAPP complex, Amino Acid Substitution, Haplotypes, Neurodevelopmental Disorders, Mutation, symbols, biology.protein, Female, Protein Multimerization, 030217 neurology & neurosurgery, Protein Binding, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c96e598f2a71699777a83f839b93fe1Test
https://doi.org/10.1136/jmedgenet-2020-107016Test
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