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1Academic JournalClinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
المؤلفون: Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub‐Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpi, Hakan Cetin
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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2Academic JournalSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3Academic Journal
المؤلفون: Felicia Krämer, Benedikt Gröner, Chris Hoffmann, Austin Craig, Melanie Brugger, Alexander Drzezga, Marco Timmer, Felix Neumaier, Boris D. Zlatopolskiy, Heike Endepols, Bernd Neumaier
المصدر: Cancers; Volume 13; Issue 23; Pages: 6030
مصطلحات موضوعية: PET, nuclear medicine, radiotracer, orthotopic xenograft model, [ 18 F]FPhe, glioblastoma
وصف الملف: application/pdf
Relation: Methods and Technologies Development; https://dx.doi.org/10.3390/cancers13236030
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4
المؤلفون: Ivana Dzinovic, Elisabeth Graf, Melanie Brugger, Riccardo Berutti, Iva Příhodová, Astrid Blaschek, Juliane Winkelmann, Robert Jech, Katharina Vill, Michael Zech
المصدر: Movement Disorders Clinical Practice.
مصطلحات موضوعية: Neurology, Neurology (clinical)
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5
المؤلفون: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner
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6
المؤلفون: Margot R.F. Reijnders, Annette Seibt, Melanie Brugger, Ideke J.C. Lamers, Torsten Ott, Oliver Klaas, Judit Horváth, Ailsa M.S. Rose, Isabel M. Craghill, Theresa Brunet, Elisabeth Graf, Katharina Mayerhanser, Debby Hellebrekers, David Pauck, Eva Neuen-Jacob, Richard J.T. Rodenburg, Dagmar Wieczorek, Dirk Klee, Ertan Mayatepek, Gertjan Driessen, Robert Bindermann, Luisa Averdunk, Klaus Lohmeier, Margje Sinnema, Alexander P.A. Stegmann, Ronald Roepman, James A. Poulter, Felix Distelmaier
مصطلحات موضوعية: Genetics (clinical)
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7
المؤلفون: Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
مصطلحات موضوعية: Genetics, Developmental defects, epilepsy, human genetics, sequence analysis, DNA, Genetics (clinical), ddc
وصف الملف: application/pdf
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8
المؤلفون: Paul C. Marcogliese, Samantha L. Deal, Jonathan Andrews, J. Michael Harnish, V. Hemanjani Bhavana, Hillary K. Graves, Sharayu Jangam, Xi Luo, Ning Liu, Danqing Bei, Yu-Hsin Chao, Brooke Hull, Pei-Tseng Lee, Hongling Pan, Pradnya Bhadane, Mei-Chu Huang, Colleen M. Longley, Hsiao-Tuan Chao, Hyung-lok Chung, Nele A. Haelterman, Oguz Kanca, Sathiya N. Manivannan, Linda Z. Rossetti, Ryan J. German, Amanda Gerard, Eva Maria Christina Schwaibold, Sarah Fehr, Renzo Guerrini, Annalisa Vetro, Eleina England, Chaya N. Murali, Tahsin Stefan Barakat, Marieke F. van Dooren, Martina Wilke, Marjon van Slegtenhorst, Gaetan Lesca, Isabelle Sabatier, Nicolas Chatron, Catherine A. Brownstein, Jill A. Madden, Pankaj B. Agrawal, Boris Keren, Thomas Courtin, Laurence Perrin, Melanie Brugger, Timo Roser, Steffen Leiz, Frederic Tran Mau-Them, Julian Delanne, Elena Sukarova-Angelovska, Slavica Trajkova, Erik Rosenhahn, Vincent Strehlow, Konrad Platzer, Roberto Keller, Lisa Pavinato, Alfredo Brusco, Jill A. Rosenfeld, Ronit Marom, Michael F. Wangler, Shinya Yamamoto
المساهمون: Clinical Genetics
المصدر: Cell Reports, 38(11):110517. Cell Press
مصطلحات موضوعية: humanization, T2A-GAL4, Autism Spectrum Disorder, Glycine, undiagnosed diseases, autism spectrum disorder, Drosophila melanogaster, functional genomics, GLRA2, GluClalpha, missense variants, rare genetic diseases, TG4, Animals, Genetic Predisposition to Disease, Humans, Autistic Disorder, Drosophila, Neurodevelopmental Disorders, Receptors, Glycine, General Biochemistry, Genetics and Molecular Biology, Receptors
وصف الملف: application/pdf
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9
المؤلفون: Bernt Popp, Melanie Brugger, Sibylle Poschmann, Tobias Bartolomaeus, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek-Augustat, Elisabeth Graf, Matias Wagner, Johannes Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet
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10The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
المؤلفون: Bernt Popp, Melanie Brugger, Sibylle Poschmann, Tobias Bartolomaeus, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek‐Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R Lemke, Thomas Meitinger, Rami Abou Jamra, Vincent Strehlow, Theresa Brunet
المصدر: Clin. Genet. 103, 226-230 (2023)
مصطلحات موضوعية: SHORT REPORT, SHORT REPORTS, gain-of-function, Glu1099Lys, neurodevelopmental disorder, NSD2, Rauch-Steindl syndrome, Wolf-Hirschhorn syndrome, Genetics, Glu1099lys, Nsd2, Rauch-steindl Syndrome, Wolf-hirschhorn Syndrome, Gain-of-function, Neurodevelopmental Disorder, Genetics (clinical), ddc
وصف الملف: application/pdf
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11
المؤلفون: Niklas Kolks, Heike Endepols, Austin Craig, Johannes Zischler, Elizaveta A. Urusova, Bernd Neumaier, Melanie Brugger, Boris D. Zlatopolskiy
المصدر: Chemical communications 56(66), 9505-9508 (2020). doi:10.1039/D0CC02223C
مصطلحات موضوعية: Metals and Alloys, Late stage, chemistry.chemical_element, General Chemistry, Automated radiosynthesis, Copper, Combinatorial chemistry, Catalysis, Surfaces, Coatings and Films, Electronic, Optical and Magnetic Materials, chemistry.chemical_compound, Nickel, Template, chemistry, ddc:540, Materials Chemistry, Ceramics and Composites, Aromatic amino acids
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مصطلحات موضوعية: Genetics, Terminal (electronics), Male patient, media_common.quotation_subject, Nonsense, medicine, Biology, medicine.disease, Phenotype, Microphthalmia, media_common
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13
المؤلفون: Maria J. Guillen Sacoto, Jane A. Hurst, Yue Huang, Susan M. White, Michael E. March, Daniela Choukair, Qin Wang, Dana Brown, Matthew S. Kayser, Hane Lee, Tiong Yang Tan, Kristin Lindstrom, Hagit Baris Feldman, Dov Tiosano, Dong Li, Ashita Dava-Wala, Mariam Mathew, Matthew A. Deardorff, Katheryn Grand, Amy Siemon, Lynn Pais, Elizabeth J. Bhoj, Theresa Brunet, Julian A. Martinez-Agosto, Hakon Hakonarson, Naihua N. Gong, Kirsty McWalter, Claudia Gonzaga-Jauregui, Theresa A. Grebe, John Christodoulou, Melanie Brugger, Dennis Bartholomew, Yuanquan Song, Małgorzata J.M. Nowaczyk, Nikolas Boy, Emma Wakeling, Alina Kurolap, Eva M. C. Schwaibold
المصدر: Science Advances
مصطلحات موضوعية: Microcephaly, animal structures, Biology, 03 medical and health sciences, fluids and secretions, 0302 clinical medicine, Neurodevelopmental disorder, Developmental Neuroscience, mental disorders, Intellectual disability, medicine, reproductive and urinary physiology, Research Articles, Loss function, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, fungi, SciAdv r-articles, Human Genetics, medicine.disease, Phenotype, ddc, Chromatin, Mushroom bodies, Sensory dendrite, 030217 neurology & neurosurgery, Research Article
وصف الملف: application/pdf
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14
المؤلفون: Eberhard Lurz, Melanie Brugger, Ingo Borggraefe, Matias Wagner, Thomas Meitinger, Fiona Becker-Dettling, Tim M. Strom, Theresa Brunet
المصدر: Ann. Clin. Transl. Neurol. 8, 278-283 (2021)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, Candidate gene, Enteroendocrine cell, Brief Communication, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, medicine, Humans, Gene, Exome sequencing, Genetics, business.industry, General Neuroscience, Infant, medicine.disease, Phenotype, ddc, 030104 developmental biology, Failure to thrive, Mutation, Female, Neurology (clinical), medicine.symptom, business, Brief Communications, Spasms, Infantile, 030217 neurology & neurosurgery, Biogenesis
وصف الملف: application/pdf
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15
المؤلفون: Petra Pavelekova, Felix Distelmaier, Gloria Sarah Leszinski, Tim M. Strom, Ján Necpál, S. Leiz, Urania Kotzaeridou, Petra Havránková, Timo Roser, Maja Hempel, Ingo Borggraefe, Korbinian M. Riedhammer, Reka Kovacs, Matej Skorvanek, Melanie Brugger, Bader Alhaddad, Robert Jech, Matias Wagner, Riccardo Berutti, Sebastian A. Schroeder, Dominik S. Westphal, Thomas Meitinger, Georg F. Hoffmann, Theresa Brunet, Elisabeth Graf, Gertrud Strobl-Wildemann, Christine Makowski, Sandrina Weber, Juliane Winkelmann, Robert Steinfeld, Julia Hoefele, Michael Zech, Katharina Mayerhanser, Isabella Mahle
المصدر: Clinical Genetics
Clin. Genet. 100, 14-28 (2021)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Candidate gene, Adolescent, Computational biology, 030105 genetics & heredity, Biology, Tertiary Care Centers, 03 medical and health sciences, Young Adult, Autism, Candidate Gene, De Novo Variant, Exome Sequencing, Intellectual Disability, Neurodevelopmental Disorder, Reanalysis, Neurodevelopmental disorder, Intellectual disability, Human Phenotype Ontology, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Retrospective Studies, Genetic heterogeneity, Infant, Newborn, Genetic Variation, Infant, Middle Aged, medicine.disease, 3. Good health, ddc, 030104 developmental biology, Phenotype, Autism spectrum disorder, Neurodevelopmental Disorders, Child, Preschool, Female
وصف الملف: application/pdf
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المؤلفون: Nikolas Boy, Emma Wakeling, Julian A. Martinez, Lynn Pais, Qin Wang, Eva M. C. Schwaibold, Mariam Mathew, Katheryn Grand, Theresa Brunet, Małgorzata J.M. Nowaczyk, Matthew A Deardorff, Hane Lee, Ashita Dava-Wala, Kristin Lindstrom, Dana Brown, Kirsty McWalter, Matthew S. Kayser, Alina Kurolap, Yue Huang, Claudia Gonzaga-Jauregui, Elizabeth J. Bhoj, John Christodoulou, Hakon Hakonarson, Dov Tiosano, Amy Siemon, Tiong Yang Tan, Naihua N. Gong, Dennis Bartholomew, Yuanquan Song, Maria J. Guillen Sacoto, Hagit Baris Feldman, Dong Li, Susan M. White, Michael E. March, Daniela Choukair, Jane A. Hurst, Melanie Brugger, Theresa A. Grebe
مصطلحات موضوعية: Genetics, Microcephaly, Gene knockdown, Neurodevelopmental disorder, Mushroom bodies, Intellectual disability, medicine, Biology, medicine.disease, Phenotype, Loss function, Chromatin
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17
المؤلفون: Austin, Craig, Niklas, Kolks, Elizaveta A, Urusova, Johannes, Zischler, Melanie, Brugger, Heike, Endepols, Bernd, Neumaier, Boris D, Zlatopolskiy
المصدر: Chemical communications (Cambridge, England). 56(66)
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المؤلفون: Theresa Brunet, Nikolas Boy, Eva Maria Christina Schwaibold, Matias Wagner, Laura Elena Orec, Melanie Brugger
المصدر: Gene. 768
مصطلحات موضوعية: 0301 basic medicine, Male, Autism Spectrum Disorder, Developmental Disabilities, Nerve Tissue Proteins, Biology, Plasma Membrane Neurotransmitter Transport Proteins, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Locus heterogeneity, Gene Duplication, Intellectual Disability, Intellectual disability, Gene duplication, Exome Sequencing, Genetics, medicine, Humans, Genetic Testing, Child, Exome sequencing, Genetic testing, Comparative Genomic Hybridization, medicine.diagnostic_test, Siblings, Brain Diseases, Metabolic, Inborn, General Medicine, medicine.disease, Creatine, 030104 developmental biology, Autism spectrum disorder, 030220 oncology & carcinogenesis, Etiology, Mental Retardation, X-Linked, Muscle Hypotonia, Female, Chromosomes, Human, Pair 16
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المصدر: Clinical Genetics. 100:489-490
مصطلحات موضوعية: Genetics, Terminal (electronics), Male patient, media_common.quotation_subject, Nonsense, medicine, Biology, medicine.disease, Microphthalmia, Phenotype, Genetics (clinical), media_common
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20eBook
المؤلفون: Mélanie Brugger
Resource Type: eBook.
Categories: FICTION / General, FICTION / Literary, FICTION / Psychological, FICTION / Women, FICTION / Small Town & Rural
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