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1دورية أكاديمية
المصدر: Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2054-345X
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2دورية أكاديمية
المؤلفون: Christopher W Fell, Astrid Hagelkruys, Ana Cicvaric, Marion Horrer, Lucy Liu, Joshua Shing Shun Li, Johannes Stadlmann, Anton A Polyansky, Stefan Mereiter, Miguel Angel Tejada, Tomislav Kokotović, Venkat Swaroop Achuta, Angelica Scaramuzza, Kimberly A Twyman, Michelle M Morrow, Jane Juusola, Huifang Yan, Jingmin Wang, Margit Burmeister, Biswa Choudhury, Thomas Levin Andersen, Gerald Wirnsberger, Uffe Holmskov, Norbert Perrimon, Bojan Žagrović, Francisco J Monje, Jesper Bonnet Moeller, Josef M Penninger, Vanja Nagy
المصدر: EMBO Molecular Medicine, Vol 14, Iss 9, Pp n/a-n/a (2022)
مصطلحات موضوعية: extracellular matrix, FIBCD1, glycosaminoglycans, genetics, neurodevelopmental disorder, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Tomislav Kokotović, Michiel Langeslag, Ewelina M. Lenartowicz, John Manion, Christopher W. Fell, Elham Alehabib, Abbas Tafakhori, Hossein Darvish, Eric J. Bellefroid, G. Gregory Neely, Michaela Kress, Josef M. Penninger, Vanja Nagy
المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)
مصطلحات موضوعية: Prdm12, TRPV1, capsaicin, pain, nociception, CIP, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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4
المؤلفون: Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
المساهمون: Clinical Genetics, University of St Andrews. School of Biology, University of St Andrews. Institute of Behavioural and Neural Sciences, University of St Andrews. St Andrews Bioinformatics Unit
المصدر: Human Genetics. Springer-Verlag
Human Geneticsمصطلحات موضوعية: MCC, NDAS, Genetics, QH426 Genetics, QH426, Genetics (clinical)
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
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5
المؤلفون: Tomislav Kokotović, Ewelina M. Lenartowicz, Michiel Langeslag, Cosmin I. Ciotu, Christopher W. Fell, Angelica Scaramuzza, Michael J. M. Fischer, Michaela Kress, Josef M. Penninger, Vanja Nagy
المصدر: The FEBS journal. 289(12)
مصطلحات موضوعية: Homeodomain Proteins, Mesoderm, Mice, Ganglia, Spinal, NAV1.7 Voltage-Gated Sodium Channel, Animals, Humans, Nociceptors, Cell Biology, Molecular Biology, Biochemistry, NAV1.9 Voltage-Gated Sodium Channel, Transcription Factors
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6
المؤلفون: null Tomislav Kokotović, null Ewelina M. Lenartowicz, null Michiel Langeslag, null Cosmin I. Ciotu, null Christopher W. Fell, null Angelica Scaramuzza, null Michael J.M. Fischer, null Michaela Kress, null Josef M. Penninger, null Vanja Nagy
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::45c357a071e332bab2b1c88aa110cabc
https://doi.org/10.1111/febs.16347/v2/response1 -
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المصدر: Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021)مصطلحات موضوعية: Genetics, business.industry, Neurodevelopmental disorders, QH426-470, Biochemistry, Phenotype, Life, Male patient, QH501-531, cohesin, genomic DNA, lamotrigine, stromal antigen 2, unclassified drug, Mutation (genetic algorithm), Data Report, Medicine, Missense mutation, business, Clinical phenotype, Molecular Biology, Neurological disorders, Rare disease
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8
المؤلفون: Bojan Zagrovic, Astrid Hagelkruys, Christopher W. Fell, Michelle M. Morrow, Jingmin Wang, Norbert Perrimon, Francisco J. Monje, Angelica Scaramuzza, Gerald Wirnsberger, Marion Horrer, Kimberly Twyman, Miguel Á. Tejada, Huifang Yan, Stefan Mereiter, Thomas Levin Andersen, Tomislav Kokotović, Jesper B. Moeller, Joshua Shing Shun Li, Ana Cicvaric, Lucy Liu, Margit Burmeister, Johannes Stadlmann, Vanja Nagy, Uffe Holmskov, Anton A. Polyansky, Josef M. Penninger, Jane Juusola
مصطلحات موضوعية: Extracellular matrix, Candidate gene, Gene knockdown, Innate immune system, Chemistry, Hippocampus, Stimulation, Receptor, Phenotype, Cell biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9f14a0284f49f27ba24a2d6345a25ea1
https://doi.org/10.1101/2021.09.09.459581 -
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المؤلفون: Jörg Menche, Pisanu Buphamalai, Tomislav Kokotović, Vanja Nagy
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communicationsمصطلحات موضوعية: Genotype, Science, General Physics and Astronomy, Disease, Computational biology, Biology, computer.software_genre, Models, Biological, Article, General Biochemistry, Genetics and Molecular Biology, Rare Diseases, Genotype-phenotype distinction, Protein Interaction Mapping, Genetics research, Humans, Computational models, Gene Regulatory Networks, Gene, Multidisciplinary, Genetic interaction, Computational Biology, General Chemistry, Phenotype, Regulatory networks, Data integration, computer, Algorithms, Network approach, Network analysis, Rare disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce28e5b9bda9c36a15b8b6f374936af0
https://hdl.handle.net/11353/10.1597331 -
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المؤلفون: Elham Alehabib, Tomislav Kokotović, Sakineh Ranji-Burachaloo, Abbas Tafakhori, Samira Molaei Ramshe, Zahra Esmaeilizadeh, Hossein Darvish, Abolfazl Movafagh, Vanja Nagy
المصدر: Clinical Neurology and Neurosurgery. 213:107108
مصطلحات موضوعية: Intellectual Disability, Myoclonic Epilepsy, Juvenile, Exome Sequencing, Humans, Epilepsy, Generalized, Surgery, Calcium Channels, Neurology (clinical), General Medicine, Iran, Pedigree