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1دورية أكاديمية
المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المؤلفون: Christina Wilms, Klaudia Lepka, Felix Häberlein, Steven Edwards, Jörg Felsberg, Linda Pudelko, Tobias T. Lindenberg, Gereon Poschmann, Nan Qin, Katrin Volbracht, Tim Prozorovski, Sven G. Meuth, Ulf D. Kahlert, Marc Remke, Orhan Aktas, Guido Reifenberger, Lars Bräutigam, Benjamin Odermatt, Carsten Berndt
المصدر: Redox Biology, Vol 49, Iss , Pp 102221- (2022)
مصطلحات موضوعية: Redox signaling, Transcription, Oligodendrocytes, Glioblastoma, Cancer invasion, Zebrafish, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Daniel Trnka, Anna D. Engelke, Manuela Gellert, Anna Moseler, Md Faruq Hossain, Tobias T. Lindenberg, Luca Pedroletti, Benjamin Odermatt, João V. de Souza, Agnieszka K. Bronowska, Tobias P. Dick, Uli Mühlenhoff, Andreas J. Meyer, Carsten Berndt, Christopher Horst Lillig
المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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4
المؤلفون: Changsheng Liu, Jeshurun C Kalanithy, Shiva Ahmadi, Alexander Harder, Dominic Winter, Öznur Yilmaz, T. Duman, Funda Turan, Ryan B. MacDonald, Tobias T. Lindenberg, Benjamin Odermatt, Lena Schünemann
المصدر: Journal of Neuroscience Research. 99:2774-2792
مصطلحات موضوعية: Male, Agonist, biology, medicine.drug_class, Glutamate receptor, biology.organism_classification, Axons, Oligodendrocyte, Cell biology, Oligodendroglia, Cellular and Molecular Neuroscience, Myelin, medicine.anatomical_structure, Glutamates, nervous system, medicine, Animals, Glutamate reuptake, Premovement neuronal activity, Female, Remyelination, Zebrafish, Myelin Sheath
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5
المؤلفون: Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak
المصدر: Journal of medical genetics.
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6
المؤلفون: Stephanie Efthymiou, Julien Buratti, Farah Bibi, Omar Dabbagh, Perrine Charles, Julia Hoefele, Kristi J. Jones, Enrico Mingardo, Jeshurun C Kalanithy, Matias Wagner, Hessa S. Alsaif, Konrad Platzer, Henry Houlden, Jaya Punetha, Sandra T. Cooper, Jennifer E. Posey, Tikam Chand Dakal, Leigh B. Waddell, Holger Thiele, Elise Valkanas, Davut Pehlivan, Zeynep Coban Akdemir, Beth Hudson, Shahzad Haider, Haktan Bağış Erdem, Jawid M Fatih, Fowzan S. Alkuraya, Solveig Heide, Andreas Ziegler, Michelle Demos, Heiko Reutter, Paul R Mark, Dana Marafi, Vincenzo Salpietro, Steffen Syrbe, Meriel McEntagart, Delphine Héron, Ilaria Guella, Jennifer Burton, James R. Lupski, Natalia Dominik, Daniel G. MacArthur, Tipu Sultan, Wendy K. Chung, Annalisa Vetro, Ender Karaca, George E. Hoganson, Rhonda E. Schnur, Bhanupriya Dhabhai, Sarah A. O'Shea, Tadahiro Mitani, Volkan Okur, Emily C. Oates, Tobias T. Lindenberg, Renzo Guerrini, Benjamin Odermatt, Gabriel C. Dworschak, Öznur Yilmaz, Jill V. Hunter, Shalini N. Jhangiani, Boris Keren, Korbinian M. Riedhammer, Caroline Nava, Stanley Fahn, Reza Maroofian, Roy N. Alcalay
المصدر: Genetics in Medicine
مصطلحات موضوعية: 0301 basic medicine, Central nervous system, Nerve Tissue Proteins, Receptors, Cell Surface, Article, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Homologous chromosome, medicine, Missense mutation, Animals, Humans, Global developmental delay, Eye Abnormalities, Zebrafish, Genetics (clinical), Genetic Association Studies, Genetics, biology, biology.organism_classification, medicine.disease, Embryonic stem cell, Phenotype, ddc, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: Reinhardt F; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Coen L; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Rivandi M; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Franken A; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Setyono ESA; Center for Regenerative Therapies TU Dresden (CRTD), Center for Molecular and Cellular Bioengineering (CMCB), TU Dresden, 01307 Dresden, Germany.; Center for Healthy Aging, Faculty of Medicine Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany., Lindenberg T; Anatomical Institute, Neuroanatomy, Medical Faculty, University of Bonn, 53115 Bonn, Germany., Eberhardt J; ALS Automated Lab Solutions GmbH, 07745 Jena, Germany., Fehm T; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Niederacher D; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany., Knopf F; Center for Regenerative Therapies TU Dresden (CRTD), Center for Molecular and Cellular Bioengineering (CMCB), TU Dresden, 01307 Dresden, Germany.; Center for Healthy Aging, Faculty of Medicine Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany., Neubauer H; Department of Obstetrics and Gynecology, Heinrich Heine University of Duesseldorf, 40225 Duesseldorf, Germany.; Center for Integrated Oncology (CIO Aachen, Bonn, Cologne, Duesseldorf), 53127 Bonn, Germany.; Life Science Center, Merowingerplatz 1 A, 40225 Düsseldorf, Germany.
المصدر: Cancers [Cancers (Basel)] 2023 Nov 14; Vol. 15 (22). Date of Electronic Publication: 2023 Nov 14.
نوع المنشور: Journal Article
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE
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8دورية أكاديمية
المؤلفون: Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de., Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Mingardo E; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA., Dakal TC; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dhabhai B; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India., Dabbagh O; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan., Haider S; Department of Paediatric Medicine, Wah Medical College, Rawalpindi, Pakistan., Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada., Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada., Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Nava C; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Institut du Cerveau et de la Moelle épinière, Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France., Héron D; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Heide S; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France., Valkanas E; Center for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia., Oates EC; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW, Australia., Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Children's Medical Research Institute, Westmead, NSW, Australia., MacArthur D; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Ziegler A; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Okur V; Department of Pediatrics, Columbia University, New York, NY, USA., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., O'Shea SA; Department of Neurology, Columbia University, New York, NY, USA., Alcalay R; Department of Neurology, Columbia University, New York, NY, USA., Fahn S; Department of Neurology, Columbia University, New York, NY, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital Grand Rapids, New York, MI, USA., Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy., Hudson B; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Hoganson GE; Department of Pediatrics, University of Illinois, College of Medicine, Chicago, IL, USA., Burton JE; Department of Pediatrics, University of Illinois, College of Medicine, Peoria, IL, USA., McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, United Kingdom., Lindenberg T; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Yilmaz Ö; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany., Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Sep; Vol. 23 (9), pp. 1715-1725. Date of Electronic Publication: 2021 May 30.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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