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1دورية أكاديمية
المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield, Genetics, QH426-470
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/364681d5e75041ca8dc96c630c12c069Test
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520Test
https://doaj.org/article/364681d5e75041ca8dc96c630c12c069Test -
2دورية أكاديمية
المؤلفون: Ana Marina B. de Figueiredo, Jéssica Cristina dos Santos, Brenda Kischkel, Edwin Ardiansyah, Marije Oosting, Grazzielle Guimarães Matos, Iara Barreto Neves Oliveira, Frank van de Veerdonk, Mihai G. Netea, Célia Maria de Almeida Soares, Fátima Ribeiro-Dias, Leo A. B. Joosten
المصدر: Journal of Fungi; Volume 9; Issue 4; Pages: 428
مصطلحات موضوعية: Paracoccidioidomycosis, GWAS, genetic polymorphism, CLEC7A, PROM1, CD38
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Fungal Pathogenesis and Disease Control; https://dx.doi.org/10.3390/jof9040428Test
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3دورية أكاديمية
المؤلفون: Ana Marina B. de Figueiredo, Jéssica Cristina dos Santos, Brenda Kischkel, Edwin Ardiansyah, Marije Oosting, Grazzielle Guimarães Matos, Iara Barreto Neves Oliveira, Frank van de Veerdonk, Mihai G. Netea, Célia Maria de Almeida Soares, Fátima Ribeiro-Dias, Leo A. B. Joosten
المصدر: Journal of Fungi, Vol 9, Iss 4, p 428 (2023)
مصطلحات موضوعية: Paracoccidioidomycosis, GWAS, genetic polymorphism, CLEC7A, PROM1, CD38, Biology (General), QH301-705.5
العلاقة: https://www.mdpi.com/2309-608X/9/4/428Test; https://doaj.org/toc/2309-608XTest; https://doaj.org/article/c9d0a26c18dd455899149f41bcdefcfaTest
الإتاحة: https://doi.org/10.3390/jof9040428Test
https://doaj.org/article/c9d0a26c18dd455899149f41bcdefcfaTest -
4دورية أكاديمية
المؤلفون: Zhaoli Liu, Gizem Kilic, Wenchao Li, Ozlem Bulut, Manoj Kumar Gupta, Bowen Zhang, Cancan Qi, He Peng, Hsin-Chieh Tsay, Chai Fen Soon, Yonatan Ayalew Mekonnen, Anaísa Valido Ferreira, Caspar I. van der Made, Bram van Cranenbroek, Hans J. P. M. Koenen, Elles Simonetti, Dimitri Diavatopoulos, Marien I. de Jonge, Lisa Müller, Heiner Schaal, Philipp N. Ostermann, Markus Cornberg, Britta Eiz-Vesper, Frank van de Veerdonk, Reinout van Crevel, Leo A. B. Joosten, Jorge Domínguez-Andrés, Cheng-Jian Xu, Mihai G. Netea, Yang Li
المصدر: Frontiers in Immunology, Vol 13 (2022)
مصطلحات موضوعية: COVID-19, SARS-CoV-2, convalescence, multi-omics, single-cell sequencing, DNA methylation, Immunologic diseases. Allergy, RC581-607
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2022.838132/fullTest; https://doaj.org/toc/1664-3224Test; https://doaj.org/article/7996e55ddd29440c90a66dc04e748775Test
الإتاحة: https://doi.org/10.3389/fimmu.2022.838132Test
https://doaj.org/article/7996e55ddd29440c90a66dc04e748775Test -
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المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s001Test
https://figshare.com/articles/dataset/DataSheet1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_DOCX/24957435Test -
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المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s004Test
https://figshare.com/articles/dataset/Table3_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957453Test -
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المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s002Test
https://figshare.com/articles/dataset/Table1_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957441Test -
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المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s003Test
https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450Test -
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المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s003Test
https://figshare.com/articles/dataset/Table2_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957450Test -
10
المؤلفون: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
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, rapid exome sequencing, diagnostic workflow, turnaround time, clinical outcome, diagnostic yield
الإتاحة: https://doi.org/10.3389/fgene.2023.1304520.s004Test
https://figshare.com/articles/dataset/Table3_Lessons_learned_from_rapid_exome_sequencing_for_575_critically_ill_patients_across_the_broad_spectrum_of_rare_disease_XLSX/24957453Test