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1دورية أكاديمية
المؤلفون: Elisa Calì, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Faqeih, Emilia K. Bijlsma, Kristen Wigby, Diana Baralle, Mohammad Yahya Vahidi Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn C. Jones, Dmitriy Niyazov, Jennifer Jacober, Rebecca O. Littlejohn, Denisa Weis, Neda Zadeh, Lance H. Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra‐Clarke, Gabriella Horváth, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto‐van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya Ebrahimi Nasab, A. Gulhan Ercan‐Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stéphanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada M.H. Abdel‐Salam, Megan Li, Mario Bengala, Amelie J. Müller, María Cristina Digilio
مصطلحات موضوعية: Protein Arginine Methylation in Mammals, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epigenetic Modifications and Their Functional Implications, Protein Arginine Methyltransferases, Brachydactyly, Short stature, Autism spectrum disorder, Hypotonia, Global developmental delay, Neurodevelopmental disorder, Intellectual disability, Craniofacial, Craniofacial abnormality, Medicine, Genetics, FOS Biological sciences, Pediatrics, Psychology, FOS Psychology, Phenotype, Autism, Biology, Psychiatry, Gene
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المؤلفون: Anna Benet-Pagès, Stephanie Kleinle, Oliver Peschel, Andreas Laner, Ulrike Schön, Anna Holzer, Elke Holinski-Feder, Florentine Scharf, Isabel Diebold
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Computational biology, 030204 cardiovascular system & hematology, Biology, Sudden unexplained death, 03 medical and health sciences, Annotation, 0302 clinical medicine, Molecular autopsy, Human Phenotype Ontology, Exome Sequencing, Genetics, Humans, Exome, lcsh:RC31-1245, Gene, Genetics (clinical), Exome sequencing, Variant interpretation, Whole exome sequencing, Computational Biology, Human genetics, ddc, lcsh:Genetics, 030104 developmental biology, Phenotype, Technical Advance, Autopsy, HPO, DNA microarray
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0312665bed7c16bfa9405c4d8b6c161Test
https://doaj.org/article/08a11a22f2ea42599a42a39be34627aaTest -
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المؤلفون: Udo Koehler, Tanja Haeusser, Brigitte Mauracher, Andreas Laner, Christiane Kling, Nils Rahner, Kerstin Schaefer, Verena Steinke-Lange, Monika Morak, Jessica Bailey, Susanne Keinath, Elke Holinski-Feder, Trisari Massdorf
المصدر: Eur J Hum Genet
مصطلحات موضوعية: DNA, Complementary, RNA Stability, Mutation, Missense, Biology, DNA Mismatch Repair, Article, Complementary DNA, Genetics, Humans, Missense mutation, RNA, Messenger, Allele, Gene, Alleles, Genetics (clinical), Messenger RNA, RNA, Exons, Nonsense Mediated mRNA Decay, Alternative Splicing, Gene Expression Regulation, Codon, Nonsense, RNA splicing, DNA mismatch repair, RNA Splice Sites, Colorectal Neoplasms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b955d50e7382adc08238bc3b0c6f4Test
https://doi.org/10.1038/s41431-019-0472-8Test -
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المؤلفون: Elke Holinski-Feder, Janine Graf, Brigitte Schönfeld, Andreas Laner, Udo Koehler, Ariane Hallermayr, Anna Benet-Pagès
المصدر: Clinical Case Reports
مصطلحات موضوعية: 0301 basic medicine, NR_023343.1:n.116A>C, Case Report, Nucleotide substitution, Case Reports, Compound heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Critical regions, Medicine, RNU4ATAC gene, Nucleotide, Gene, Roifman Syndrome, Roifman syndrome, Genetics, chemistry.chemical_classification, NR_023343.1:n.13C>T, business.industry, RNU4ATAC, clinical exome sequencing, General Medicine, minor intron splicing, 030104 developmental biology, chemistry, snRNA U4atac, business, 030217 neurology & neurosurgery, Coding (social sciences)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2bc486981ba76c51499c643ba1d996Test
https://doi.org/10.1002/ccr3.1830Test -
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المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
المصدر: Frontiers in Genetics
Frontiers in Genetics, 11. FRONTIERS MEDIA SA
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, mismatch repair genes, lcsh:QH426-470, mRNA, Computational biology, Biology, 0604 Genetics, 1103 Clinical Sciences, 1801 Law, Settore MED/03 - GENETICA MEDICA, mRNA splicing, 03 medical and health sciences, 0302 clinical medicine, variant interpretation and classification, Genetics, Missense mutation, Indel, Gene, Genetics (clinical), Messenger RNA, Brief Research Report, MSH6, lcsh:Genetics, 030104 developmental biology, Lynch syndrome, variant type, MSH2, 030220 oncology & carcinogenesis, RNA splicing, Molecular Medicine, DNA mismatch repair, splicing aberrations
وصف الملف: application/pdf; Electronic-eCollection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d85f0449e4dd3951a292aaa40f19af4Test
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المصدر: Hereditary Colorectal Cancer ISBN: 9783319742588
مصطلحات موضوعية: Colorectal cancer, Alternative splicing, Genetic variants, medicine, Human genome, Genetic variability, Computational biology, Biology, medicine.disease, Gene, Inherited Predisposition
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b34c03c6717169980baaf53dcbe5a4aTest
https://doi.org/10.1007/978-3-319-74259-5_18Test -
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المؤلفون: Isabel Spier, Verena Steinke, Sandra M. Pasternack, Stefan Aretz, Elke Holinski-Feder, Per Hoffmann, Holger Fröhlich, Janine Altmüller, Stefan Herms, Stefanie Heilmann, Andrea Hofmann, Alberto Perez-Bouza, Stefanie Vogt, Markus M. Nöthen, Dietlinde Stienen, Hartmut Engels, Stefanie Holzapfel, Holger Thiele, Franziska Degenhardt, Andreas Laner, Kathleen Keppler, Sukanya Horpaopan, Ronja Adam, Susanne Moebus, Markus Draaken, Siegfried Uhlhaas, Katrin Kayser, Alexander M. Zink
المصدر: International Journal of Cancer. 136:E578-E589
مصطلحات موضوعية: Genetics, Cancer Research, education.field_of_study, Candidate gene, Population, Colorectal adenoma, Biology, medicine.disease, medicine.disease_cause, Genome, Oncology, MUTYH, medicine, Copy-number variation, education, Carcinogenesis, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::49bf8e4b22e83e5de05d2fc983062434Test
https://doi.org/10.1002/ijc.29215Test -
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المؤلفون: Margarida D. Amaral, Simone Kraner, Sonja Cattani, Anabela S. Ramalho, Lucia Rocchi, Andreas Laner, Sulith Christan, Fiorentina Ascenzioni, Marlene Edlinger, Carla Braz, Dirk Schindelhauer
مصطلحات موضوعية: Chromosomes, Artificial, Bacterial, Cystic Fibrosis, Genetic enhancement, Cystic Fibrosis Transmembrane Conductance Regulator, Locus (genetics), Human artificial chromosome, Biology, medicine.disease_cause, Transfection, Cystic fibrosis, Chromosomes, Artificial, Human, cftr, pac bac, Cell Line, Tumor, Gene expression, Genetics, medicine, Escherichia coli, Humans, Cloning, Molecular, Molecular Biology, Gene, In Situ Hybridization, Fluorescence, Sequence Analysis, DNA, medicine.disease, Cystic fibrosis transmembrane conductance regulator, Doenças Genéticas, Genetic Loci, biology.protein, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e1cacf1d09ca5e58522d929bc8d8ffTest
https://hdl.handle.net/10400.18/219Test -
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المؤلفون: Katharina von Gersdorff, Florian Hoffmann, Dietrich Reinhardt, Carsten Rudolph, Stephanie Huth, Joseph Rosenecker, Andreas Laner
المصدر: The journal of gene medicine. 8(12)
مصطلحات موضوعية: Cytoplasm, Lysis, RNase P, Macromolecular Substances, Genetic Vectors, Green Fluorescent Proteins, Gene delivery, Biology, chemistry.chemical_compound, Drug Discovery, Genetics, Polyamines, Molecular Biology, Gene, Genetics (clinical), Fluorescent Dyes, Cell Nucleus, Drug Carriers, Microscopy, Confocal, Cell-Free System, RNA, DNA, Molecular biology, chemistry, Biochemistry, Molecular Medicine, Polyamine, Plasmids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f24050f137ef44e1e07b186d85322cTest
https://pubmed.ncbi.nlm.nih.gov/17029296Test -
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المؤلفون: D Schindelhauer, Andreas Laner
المصدر: Gene therapy. 9(11)
مصطلحات موضوعية: Microinjections, Green Fluorescent Proteins, Gene Transfer Techniques, Chromosome, Gene Expression, Transfection, Human artificial chromosome, Biology, Molecular biology, Chromosomes, Artificial, Human, Green fluorescent protein, chemistry.chemical_compound, Luminescent Proteins, Plasmid, medicine.anatomical_structure, chemistry, Genetics, medicine, Molecular Medicine, Humans, Molecular Biology, Gene, Nucleus, DNA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1fb48a0e0775dd76319b2507bdc2b8Test
https://pubmed.ncbi.nlm.nih.gov/12032697Test