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1دورية أكاديمية
المؤلفون: Silke Pauli, Hanna Berger, Roser Ufartes, Annette Borchers
المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)
مصطلحات موضوعية: FBRSL1, AUTS2, malformation syndrome, embryonic development, polycomb complex, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Christian Dullin, Roser Ufartes, Emanuel Larsson, Sabine Martin, Marcio Lazzarini, Giuliana Tromba, Jeannine Missbach-Guentner, Diana Pinkert-Leetsch, Dörthe M Katschinski, Frauke Alves
المصدر: PLoS ONE, Vol 12, Iss 2, p e0170597 (2017)
وصف الملف: electronic resource
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المؤلفون: Silke Pauli, Roser Ufartes, Fritz Kahl, Conny M. A. van Ravenswaaij-Arts, Monica T. Y. Wong, Maren Sitte, Regina Grün, Gabriela Salinas
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Human Molecular Genetics, 30(23), 2215-2224. Oxford University Press
مصطلحات موضوعية: Genetic Markers, ARID1A, KABUKI SYNDROMES, Biology, 03 medical and health sciences, CHARGE syndrome, 0302 clinical medicine, Downregulation and upregulation, UTX, Genetics, medicine, Humans, Immunoprecipitation, Genetic Predisposition to Disease, RNA-Seq, Craniofacial, EP300, Molecular Biology, HISTONE H3, Genetic Association Studies, Genetics (clinical), 030304 developmental biology, 0303 health sciences, SPECTRUM, CHD7 GENE, MUTATIONS, Gene Expression Profiling, Age Factors, DNA Helicases, Genetic Diseases, Inborn, METHYLATION, Genetic Variation, General Medicine, medicine.disease, Phenotype, Neoplasm Proteins, 3. Good health, Chromatin, DNA-Binding Proteins, Mutation, UPDATE, CHARGE Syndrome, Carrier Proteins, Kabuki syndrome, 030217 neurology & neurosurgery, Protein Binding
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1e79e782a5731a1cf5d9e556c1246e
https://doi.org/10.1093/hmg/ddab183 -
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المؤلفون: Gabriela Salinas, Silke Pauli, Holger Thiele, Janine Altmüller, Katharina Till, Roser Ufartes, Hanna Berger, Hendrik Langen, Neophytos Apeshiotis, Marc Sturm, Rudolf Funke, Peter Nürnberg, Annette Borchers, Bernd Wollnik
المصدر: Human Genetics
مصطلحات موضوعية: Male, Gene isoform, Microcephaly, Adolescent, Xenopus, medicine.disease_cause, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual Disability, Genetics, medicine, Animals, Humans, Protein Isoforms, Abnormalities, Multiple, Global developmental delay, Child, Genetics (clinical), Cellular localization, Original Investigation, 030304 developmental biology, Lymphokines, 0303 health sciences, Mutation, biology, Exons, Syndrome, biology.organism_classification, medicine.disease, Phenotype, Technology Platforms, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::231f9791ce7704b3338be5cf08aa0710
http://edoc.mdc-berlin.de/20554/7/20554suppl.zip -
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المؤلفون: Naira Movsisyan, Roser Ufartes, Diana Urrego, Luis A. Pardo
المصدر: Cell Cycle
مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Papillomavirus E7 Proteins, Hyperphosphorylation, Biology, Retinoblastoma Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, Report, CDC2 Protein Kinase, Animals, Humans, E2F1, Promoter Regions, Genetic, Molecular Biology, Kv10.1, Cell Proliferation, Mice, Knockout, Regulation of gene expression, Cyclin-dependent kinase 1, Ion Transport, Cell growth, Retinoblastoma protein, Cell Biology, Fibroblasts, Cell cycle, Embryo, Mammalian, Ether-A-Go-Go Potassium Channels, Cell biology, G2 Phase Cell Cycle Checkpoints, pRb, 030104 developmental biology, Gene Expression Regulation, 030220 oncology & carcinogenesis, Cancer cell, Potassium, biology.protein, cell cycle, biological phenomena, cell phenomena, and immunity, E2F1 Transcription Factor, potassium channel, HeLa Cells, Protein Binding, Signal Transduction, Developmental Biology
وصف الملف: application/pdf
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المؤلفون: Peter Wehner, Oliver Bartsch, Janika Möller, Roser Ufartes, Ina Schanze, Monica T. Y. Wong, Conny M. A. van Ravenswaaij-Arts, Janina Schwenty-Lara, Annette Borchers, Andreas Tzschach, Luisa Freese, Christiane Neuhofer, Silke Pauli
المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Human Molecular Genetics, 27(8), 1343-1352. Oxford University Press
مصطلحات موضوعية: 0301 basic medicine, Embryo, Nonmammalian, Kallmann syndrome, PHENOTYPIC SPECTRUM, medicine.disease_cause, Severity of Illness Index, Epigenesis, Genetic, Pathogenesis, AXON GUIDANCE, CHD7, CHARGE syndrome, Xenopus laevis, 0302 clinical medicine, HYPOGONADOTROPIC HYPOGONADISM, Promoter Regions, Genetic, Genetics (clinical), Genetics, Mutation, General Medicine, Phenotype, DNA-Binding Proteins, NEURAL CREST CELLS, Neural Crest, Homeobox Protein Nkx-2.5, MIGRATION, Biology, 03 medical and health sciences, Hypogonadotropic hypogonadism, KALLMANN-SYNDROME, medicine, Animals, Humans, Epigenetics, SHORT STATURE, Molecular Biology, Loss function, MUTATIONS, Genetic Complementation Test, DNA Helicases, Semaphorin-3A, Kallmann Syndrome, medicine.disease, Disease Models, Animal, 030104 developmental biology, HEK293 Cells, XENOPUS-EMBRYOS, CHARGE Syndrome, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fee26469e432a6c36752cd173555578
https://research.rug.nl/en/publications/93dbc437-c667-4685-a4ba-ea2b443d45b0 -
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المؤلفون: Alexander Wenk, Idoia Ruiz de Larramendi, Abuelmagd M. Abdelmonem, Teofilo Rojo, Joanna Rejman, Gülnaz Khadem-Saba, Marianne Geiser, Roser Ufartes, Dorleta Jimenez de Aberasturi, Jose-Maria Montenegro, Nadine Haberl, Frauke Alves, Karsten Kantner, Wolfgang J. Parak, Stephanie Hirn, Wolfgang G. Kreyling, Raimo Hartmann, Zulqurnain Ali
المصدر: Nature Nanotechnology. 10:619-623
مصطلحات موضوعية: Materials science, Polymers, Biomedical Engineering, Metal Nanoparticles, Nanoparticle, Bioengineering, Nanotechnology, Rats, Inbred WKY, Coated Materials, Biocompatible, In vivo, Animals, Tissue Distribution, General Materials Science, Particle Size, Electrical and Electronic Engineering, chemistry.chemical_classification, Polymer, Condensed Matter Physics, Atomic and Molecular Physics, and Optics, Rats, Colloidal nanoparticles, Viscera, chemistry, Organ Specificity, Colloidal gold, Drug delivery, Female, Gold, sense organs
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المؤلفون: Victor Tarabykin, Vadim Beilinson, Lena S. Mortensen, Klaus Gustav Hentrich, Tomasz Schneider, Hendrik Knoetgen, J. Nicholas P. Rawlins, Frauke Alves, Camino de Juan Romero, Luis A. Pardo, Walter Stuehmer, Wiebke Moebius, Roser Ufartes
المساهمون: Faculteit Medische Wetenschappen/UMCG, Max Planck Society
المصدر: Human Molecular Genetics, 22(11), 2247-2262. Oxford University Press
Human Molecular Genetics
Human molecular genetics, 2013, Vol.22(11), pp.2247-2262 [Peer Reviewed Journal]مصطلحات موضوعية: medicine.medical_specialty, Cerebellum, TRICYCLIC ANTIDEPRESSANTS, Genotype, Hippocampus, Action Potentials, Gating, Pharmacology, Catalepsy, Biology, HUMAN ETHER, DIFFERENTIAL EXPRESSION, Gene Knockout Techniques, Mice, Internal medicine, Gene Order, Genetics, medicine, Haloperidol, ION CHANNELS, Animals, Molecular Biology, Genetics (clinical), Prepulse inhibition, Mice, Knockout, POTASSIUM CHANNEL EXPRESSION, Behavior, Animal, K+ CHANNELS, Brain, General Medicine, Articles, medicine.disease, CANCER, Antidepressive Agents, Amphetamine, DROSOPHILA, medicine.anatomical_structure, Endocrinology, Phenotype, Potassium Channels, Voltage-Gated, Knockout mouse, Gene Targeting, RAT, medicine.drug, GO-GO
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af6a0b50644d7787d491376746791db4
https://hdl.handle.net/11370/1a186746-62c0-4bea-add2-dbdcc1ed68ca -
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المؤلفون: Alonso Barrantes-Freer, Zohreh Farsi, Jens Eilers, Hartmut Schmidt, Luis A. Pardo, Roser Ufartes, Takeshi Sakaba, Lena Sünke Mortensen, Maria E. Rubio, Walter Stühmer
المصدر: J Physiol
Journal of Physiologyمصطلحات موضوعية: Cerebellum, AP, action potential, Cares, residual calcium, GC, granule cell, HVA, high voltage activating, LVA, low voltage activating, (m)EPSC, (miniature) excitatory postsynaptic current, OGB, Oregon Green BAPTA-1, PC, Purkinje cell, PF, parallel fibre, pr, release probability, RRP, readily releasable pool, TBST, Tris-buffered saline–Tween 20, Physiology, Purkinje cell, Neurotransmission, Biology, Granule cell, Potassium channel, Cell biology, Synapse, medicine.anatomical_structure, Cerebellar cortex, medicine, Patch clamp, Neuroscience
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac5b4d438bba77d9ffd132ba22d948b9
https://hdl.handle.net/21.11116/0000-0009-F247-6 -
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المؤلفون: Lena Sünke, Mortensen, Hartmut, Schmidt, Zohreh, Farsi, Alonso, Barrantes-Freer, María E, Rubio, Roser, Ufartes, Jens, Eilers, Takeshi, Sakaba, Walter, Stühmer, Luis A, Pardo
المصدر: The Journal of physiology. 593(1)
مصطلحات موضوعية: Mice, Knockout, Action Potentials, Excitatory Postsynaptic Potentials, Neuroscience: Cellular/Molecular, Ether-A-Go-Go Potassium Channels, Rats, Sprague-Dawley, Purkinje Cells, HEK293 Cells, nervous system, Potassium Channels, Voltage-Gated, Cerebellum, Synapses, Animals, Humans, Calcium
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