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1دورية أكاديمية
المؤلفون: Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: uniparental disomy, allele frequency, imprinting, gene regulation, next-generation-sequencing, methylome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1297754/fullTest; https://doaj.org/toc/1664-8021Test
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2دورية أكاديمية
المؤلفون: Harish Sudarsanam, Maximilian Radtke, Raymund Buhmann, Vladan Vučinić, Rami Abou-Jamra, Reinhard Henschler
المصدر: HemaSphere, Vol 7, p e173592c (2023)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
العلاقة: http://journals.lww.com/10.1097/01.HS9.0000972396.17359.2cTest; https://doaj.org/toc/2572-9241Test
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3دورية أكاديمية
المؤلفون: Marek B. Körner, Akhil Velluva, Linnaeus Bundalian, Maximilian Radtke, Chen-Ching Lin, Pia Zacher, Tobias Bartolomaeus, Anna S. Kirstein, Achmed Mrestani, Nicole Scholz, Konrad Platzer, Anne-Christin Teichmann, Julia Hentschel, Tobias Langenhan, Johannes R. Lemke, Antje Garten, Rami Abou Jamra, Diana Le Duc
المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-10 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-2322Test
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4دورية أكاديمية
المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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5دورية أكاديمية
المؤلفون: Insa Halfmeyer, Tobias Bartolomaeus, Bernt Popp, Maximilian Radtke, Tobias Helms, Julia Hentschel, Denny Popp, Rami Abou Jamra
المصدر: Genes, Vol 14, Iss 1, p 30 (2022)
مصطلحات موضوعية: re-analysis, exome sequencing, neurodevelopmental disorder, Genetics, QH426-470
وصف الملف: electronic resource
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6
المؤلفون: Marie Macnee, Eduardo Pérez-Palma, Tobias Brünger, Chiara Klöckner, Konrad Platzer, Arthur Stefanski, Ludovica Montanucci, Allan Bayat, Maximilian Radtke, Ryan L Collins, Michael Talkowski, Daniel Blankenberg, Rikke S Møller, Johannes R Lemke, Michael Nothnagel, Patrick May, Dennis Lal
المساهمون: Fonds National de la Recherche - FnR [sponsor], DFG [sponsor], BMBF [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Fonds National de la Recherche - FnR
مصطلحات موضوعية: Statistics and Probability, Copy number variation, CNV, Genomics, Web browser, Biochemistry, eye diseases, Computer Science Applications, Computational Mathematics, Computational Theory and Mathematics, ACMG, Variant classification, Genetics & genetic processes [F10] [Life sciences], Génétique & processus génétiques [F10] [Sciences du vivant], Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bb4b02cd1a3af0d6add11a035c18ccTest
http://orbilu.uni.lu/handle/10993/54940Test -
7
المؤلفون: Johanna Moch, Maximilian Radtke, Janina Gburek-Augustat, Maike Karnstedt, Senta Schönnagel, Stephan H. Drukewitz, Laura Pilgram, Julia Hentschel, Isabell Schumann
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, uniparental disomy, allele frequency, imprinting, gene regulation, next-generation-sequencing, methylome, case report
الإتاحة: https://doi.org/10.3389/fgene.2023.1297754.s001Test
https://figshare.com/articles/dataset/Table1_Case_report_Complete_paternal_isodisomy_on_chromosome_18_induces_methylation_changes_in_PARD6G-AS1_promotor_in_a_case_with_arthrogryposis_DOCX/24883632Test -
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المؤلفون: Tobias Bartolomaeus, Alejandro Leal, Katharina Schoner, Ilona Krey, Rami Abou Jamra, Luis Bermúdez-Guzmán, Steffen Syrbe, Helga Rehder, Susanna Schubert, Christian Roth, Sonja Neuser, Annemarie Schwan, Margit Plassmann, Maximilian Radtke, Diana Le Duc, Stefan Rohde, Bernt Popp, Jan Henje Döring
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, Microcephaly, Genetic testing, RNA splicing, Mutation, Missense, Prenatal diagnosis, Biology, Compound heterozygosity, Article, Exon, Fetus, Neurodevelopmental disorder, Protein Domains, Prenatal Diagnosis, Genetics research, Genetics, medicine, Humans, Missense mutation, Genetics (clinical), medicine.disease, Paediatric neurological disorders, Micrencephaly, Phosphotransferases (Alcohol Group Acceptor), DNA Repair Enzymes, Phenotype, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::186f10532342877c5874b9df609f229bTest
https://doi.org/10.1038/s41431-021-00982-yTest -
9
المؤلفون: Johannes R. Lemke, Bernt Popp, Maximilian Radtke, J. Klau, R. Abou Jamra, Henry Oppermann, Skadi Beblo
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Genetic testing, Adolescent, Developmental Disabilities, DNA sequencing, Article, Young Adult, Rare Diseases, Genetics research, Exome Sequencing, Genetics, medicine, Retrospective analysis, Humans, Child, Exome, Genetics (clinical), Exome sequencing, Epilepsy, medicine.diagnostic_test, business.industry, Neurodevelopmental disorders, Genetic disorder, Infant, Magnetic resonance imaging, Paediatrics, medicine.disease, Cost savings, Single centre, Child, Preschool, Cohort, Costs and Cost Analysis, business, Spasms, Infantile
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993d1f110227342fb354325c1af41bc0Test
http://europepmc.org/articles/PMC8738730Test -
10
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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::89a5c7a0cb3149e20b052b2192e83b4aTest
https://doi.org/10.1101/2022.02.23.22271353Test