المؤلفون: Vamshi K. Rao, Anji T. Yetman, Jürgen Spranger, Richard E. Lutz, Lois J. Starr

المصدر: American Journal of Medical Genetics Part A.

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Glycosylphosphatidylinositols, Glycosylphosphatidylinositol, Long bone, Gene Expression, 030105 genetics & heredity, Biology, Transferase complex, 03 medical and health sciences, chemistry.chemical_compound, Fatal Outcome, Biosynthesis, Seizures, Sphenoid Bone, Exome Sequencing, Genetics, medicine, Humans, Abnormalities, Multiple, Phosphatidylinositol Glycan, Genetics (clinical), Bone Diseases, Developmental, Infant, Membrane Proteins, Syndrome, medicine.disease, Phenotype, 030104 developmental biology, medicine.anatomical_structure, chemistry, Dysplasia, Mutation, Cancer research, Muscle Hypotonia, Differential diagnosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ef3ab73632a0799cc3814b849ee5034Test
https://doi.org/10.1002/ajmg.a.61185Test

المؤلفون: J. V. Nikolenko, Laszlo Tora, Patrick Schultz, D. V. Kopytova, Danièle Spehner, Yulii V. Shidlovskii, M. M. Kurshakova, Sofia G. Georgieva, Elena N. Nabirochkina, A. N. Krasnov

المساهمون: Russian Academy of Sciences [Moscow] (RAS), University of Oslo (UiO), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Tora, Laszlo

المصدر: EMBO Journal
EMBO Journal, EMBO Press, 2007, 26 (24), pp.4956-4965. ⟨10.1038/sj.emboj.7601901⟩
EMBO Journal, 2007, 26 (24), pp.4956-4965. ⟨10.1038/sj.emboj.7601901⟩

مصطلحات موضوعية: Male, Transcription, Genetic, Nuclear Envelope, [SDV]Life Sciences [q-bio], RNA-binding protein, Biology, Transferase complex, Chromosomes, RNA Transport, Article, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, Transcription (biology), Two-Hybrid System Techniques, medicine, Animals, Drosophila Proteins, Humans, MRNA transport, HSP70 Heat-Shock Proteins, RNA, Messenger, Nuclear pore, Molecular Biology, Transcription factor, 030304 developmental biology, Cell Nucleus, 0303 health sciences, Gene knockdown, General Immunology and Microbiology, General Neuroscience, Cryoelectron Microscopy, 030302 biochemistry & molecular biology, RNA-Binding Proteins, Immunohistochemistry, Molecular biology, [SDV] Life Sciences [q-bio], Protein Subunits, Cell nucleus, Drosophila melanogaster, medicine.anatomical_structure, Gene Expression Regulation, Multiprotein Complexes, Nuclear Pore, RNA Interference, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f8cd869d25b9f3e5495f939b62e5d8Test
https://doi.org/10.1038/sj.emboj.7601901Test

المؤلفون: Matthew J. Watt, Lawrence L. Spriet

المصدر: Acta Physiologica Scandinavica. 178:443-452

مصطلحات موضوعية: chemistry.chemical_compound, Malonyl-CoA, Biochemistry, Lipid oxidation, chemistry, Physiology, Glycolysis, Carnitine palmitoyltransferase I, Metabolism, Carbohydrate metabolism, Transferase complex, Beta oxidation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::76ac2c3012a3db528578bdb21b8e785aTest
https://doi.org/10.1046/j.1365-201x.2003.01152.xTest

المؤلفون: Huilin Li, Zhiqiang Chen, Manasi Chavan, William J. Lennarz, Hua Li

المصدر: ResearcherID

مصطلحات موضوعية: Biochemistry, Chemistry, Genetics, Molecular Biology, Oligosaccharyl transferase complex, Biotechnology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6866c094fe26eb1e03f1a5f7a8bc6809Test
https://doi.org/10.1096/fasebj.21.6.a1021Test