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1دورية أكاديمية
المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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2دورية أكاديمية
المؤلفون: Susann Weißbach, Sofia Catalina Heredia-Guerrero, Stefanie Barnsteiner, Lukas Großhans, Jochen Bodem, Hanna Starz, Christian Langer, Silke Appenzeller, Stefan Knop, Torsten Steinbrunn, Simone Rost, Hermann Einsele, Ralf Christian Bargou, Andreas Rosenwald, Thorsten Stühmer, Ellen Leich
المصدر: Cancers, Vol 12, Iss 2, p 455 (2020)
مصطلحات موضوعية: multiple myeloma, kras, mek/erk-signaling, akt-signaling, amplicon sequencing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
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3
المؤلفون: Marie-Christine Reinert, Holger Thiele, Susann Weissbach, Peter Nürnberg, Thorsten Rosenbaum, Ralph Krätzner, Jutta Gärtner, Janine Altmüller
المصدر: American Journal of Medical Genetics Part A. 173:2803-2807
مصطلحات موضوعية: Male, 0301 basic medicine, Mild phenotype, Mutation, Missense, Context (language use), Biology, Short stature, Leukoencephalopathy, 03 medical and health sciences, Leukoencephalopathies, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Cullin Proteins, Prognosis, medicine.disease, Phenotype, 030104 developmental biology, CUL4B, medicine.symptom
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4FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy
المؤلفون: Peter Huppke, Fatima Almusafri, Martina Krusen, Susann Weissbach, Amber Begtrup, Janine Altmüller, Holger Thiele, Joseph A. Church, Annika Wolf, Peter Nürnberg, Francisca Millan, Nikolaus Kühn-Velten, Steffi Dreha-Kulaczewski, Jutta Gärtner, Rhonda E. Schnur, Michael Müller, Brenda Huppke
المصدر: Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics.
مصطلحات موضوعية: Leukoencephalopathy, Pediatrics, medicine.medical_specialty, business.industry, medicine, Neurological disorder, medicine.disease, business, NFE2L2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d1c6d7f938114d08932d1de84e9dad31
https://doi.org/10.1055/s-0038-1675914 -
5
المؤلفون: Peter Huppke, Susann Weissbach, Joseph A. Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W. Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
المصدر: Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)مصطلحات موضوعية: Male, Adolescent, NF-E2-Related Factor 2, Science, Developmental Disabilities, education, Mutation, Missense, digestive system, environment and public health, Article, Humans, lcsh:Science, Child, Binding Sites, Kelch-Like ECH-Associated Protein 1, Learning Disabilities, Immunologic Deficiency Syndromes, Brain, Infant, Syndrome, respiratory system, Magnetic Resonance Imaging, humanities, Failure to Thrive, Gene Expression Regulation, Mutation, lcsh:Q, Female
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المؤلفون: Benjamin Piña, Carlos Barata, Melissa Faria, Till Luckenbach, Anna Navarro, Susann Weißbach
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Gill, animal structures, abcc/Abcc, Health, Toxicology and Mutagenesis, Molecular Sequence Data, Dreissena polymorpha, MXR, ATP-binding cassette transporter, Aquatic Science, Biology, Dreissena, Toxicology, Stress, Physiological, Cellular stress response, Gene expression, Animals, ATP Binding Cassette Transporter, Subfamily B, Member 1, Amino Acid Sequence, Gene, Environment tissue barrier, Phylogeny, Ovum, Messenger RNA, Gene Expression Profiling, fungi, abcb1/Abcb1, Transporter, Zebra mussel, Molecular biology, Gene Expression Regulation, Larva, Efflux activity, Efflux, Multidrug Resistance-Associated Proteins, Multixenobiotic resistance, Water Pollutants, Chemical
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4ab8557216492dce65880edd8e3e299
http://hdl.handle.net/10261/109751