المؤلفون: Maria Lyraki (14248940), Angie Hibbert (6307418), Sorrel Langley-Hobbs (14248943), Philippa Lait (14248946), Reuben M Buckley (14248949), Wesley C Warren (12076037), Leslie A Lyons (14248952)

مصطلحات موضوعية: Veterinary Medicine, Whole-exome sequencing, hereditary, pycnodysostosis, pyknodysostosis, cathepsin K

العلاقة: https://figshare.com/articles/journal_contribution/sj-docx-1-jor-10_1177_20551169221137536_Supplemental_material_for_CTSK_variant_implicated_in_suspected_pyknodysostosis_in_a_domestic_cat/21714425Test

الإتاحة: https://doi.org/10.25384/sage.21714425.v1Test

المؤلفون: Berghold, Veronika M., Koko, Mahmoud, Berutti, Riccardo, Plecko, Barbara

مصطلحات موضوعية: info:eu-repo/classification/ddc, Pediatrics, Na, loss of function (LOF), ion channel gene defect, whole exome sequencing, ion channels, sodium channel paralogs, genetic testing, complex I deficiency

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1689282Test; https://mediatum.ub.tum.de/doc/1689282/document.pdfTest

الإتاحة: https://doi.org/10.3389/fped.2022.944784Test
https://mediatum.ub.tum.de/1689282Test
https://mediatum.ub.tum.de/doc/1689282/document.pdfTest

المؤلفون: Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques

مصطلحات موضوعية: info:eu-repo/classification/ddc, Article, breast cancer, genetic susceptibility, whole-exome sequencing, moderate-penetrance genes

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1686795Test; https://mediatum.ub.tum.de/doc/1686795/document.pdfTest

الإتاحة: https://doi.org/10.3390/cancers14143363Test
https://mediatum.ub.tum.de/1686795Test
https://mediatum.ub.tum.de/doc/1686795/document.pdfTest

المؤلفون: Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A., Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet G. E. M., Berutti, Riccardo, Bolla, Manjeet K., Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R., Dunning, Alison M., Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina R. R., Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Horváth, Judit, Ikram, M. Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John W. M., Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul D. P., Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M., Sutter, Christian, Thiele, Holger, van Asperen, Christi J., van der Kolk, Lizet, van der Luijt, Rob B., Volk, Alexander E., Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard H. F., Devilee, Peter, Tavtigian, Sean, Bader, Gary D., Meindl, Alfons, Goldgar, David E., Andrulis, Irene L., Schmutzler, Rita K., Easton, Douglas F., Schmidt, Marjanka K., Hahnen, Eric, Simard, Jacques

مصطلحات موضوعية: info:eu-repo/classification/ddc, Article, breast cancer, genetic susceptibility, whole-exome sequencing, moderate-penetrance genes

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1685229Test; https://mediatum.ub.tum.de/doc/1685229/document.pdfTest

الإتاحة: https://doi.org/10.3390/cancers14143363Test
https://mediatum.ub.tum.de/1685229Test
https://mediatum.ub.tum.de/doc/1685229/document.pdfTest

المؤلفون: Xinlin Chen (519690), Yulin Jiang (352354), Ruiguo Chen (6877634), Qingwei Qi (11899503), Xiujuan Zhang (174319), Sheng Zhao (1575469), Chaoshi Liu (11899506), Weiyun Wang (2889659), Yuezhen Li (6785795), Guoqiang Sun (141135), Jieping Song (11899509), Hui Huang (4122), Chen Cheng (76970), Jianguang Zhang (4473517), Longxian Cheng (196406), Juntao Liu (11899512)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Developmental Biology, Science Policy, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Physical Sciences not elsewhere classified, Whole-exome sequencing, Prenatal diagnosis, CNV-seq, Structural anomaly

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Clinical_efficiency_of_simultaneous_CNV-seq_and_whole-exome_sequencing_for_testing_fetal_structural_anomalies/17799069Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17799069.v1Test

المؤلفون: Xinlin Chen (519690), Yulin Jiang (352354), Ruiguo Chen (6877634), Qingwei Qi (11899503), Xiujuan Zhang (174319), Sheng Zhao (1575469), Chaoshi Liu (11899506), Weiyun Wang (2889659), Yuezhen Li (6785795), Guoqiang Sun (141135), Jieping Song (11899509), Hui Huang (4122), Chen Cheng (76970), Jianguang Zhang (4473517), Longxian Cheng (196406), Juntao Liu (11899512)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Developmental Biology, Science Policy, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Physical Sciences not elsewhere classified, Whole-exome sequencing, Prenatal diagnosis, CNV-seq, Structural anomaly

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Clinical_efficiency_of_simultaneous_CNV-seq_and_whole-exome_sequencing_for_testing_fetal_structural_anomalies/17799075Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17799075.v1Test

المؤلفون: Fengying Lu (6170684), Peng Xue (219948), Bin Zhang (64682), Jing Wang (6206297), Bin Yu (11728400), Jianbin Liu (754893)

مصطلحات موضوعية: Genetics, Congenital heart defects, Chromosomal abnormalities, Copy number variations, Chromosome microarray analysis, Whole exome sequencing

العلاقة: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Estimating_the_frequency_of_causal_genetic_variants_in_foetuses_with_congenital_heart_defects_a_Chinese_cohort_study/17870818Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17870818.v1Test

المؤلفون: Dunn, P. J., Harvey, N. R., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., Griffiths, L. R.

المصدر: Molecular Neurobiology

مصطلحات موضوعية: Alzheimer’s disease, Cerebral small vessel disease, Encephalopathy, Mitochondria, Nuclear-encoded mitochondrial proteins, Whole exome sequencing

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/233854/8/s12035_022_02914_3.pdfTest; Dunn, P. J., Harvey, N. R., Maksemous, N., Smith, R. A., Sutherland, H. G., Haupt, L. M., & Griffiths, L. R. (2022) Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort. Molecular Neurobiology, 59(9), pp. 5366-5378.; https://eprints.qut.edu.au/233854Test/; Centre for Genomics and Personalised Health; Academic Division; Faculty of Health; School of Biomedical Sciences

الإتاحة: https://doi.org/10.1007/s12035-022-02914-3Test
https://eprints.qut.edu.au/233854Test/

المؤلفون: Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., Griffiths, Lyn R.

المصدر: Molecular Neurobiology

مصطلحات موضوعية: Alzheimer’s disease, Burden test, CADASIL, Cerebral small vessel disease, Whole exome sequencing

وصف الملف: application/pdf

العلاقة: https://eprints.qut.edu.au/235690/1/s13047_022_00533_8.pdfTest; Dunn, Paul J., Lea, Rodney A., Maksemous, Neven, Smith, Robert A., Sutherland, Heidi G., Haupt, Larisa M., & Griffiths, Lyn R. (2022) Investigating a Genetic Link Between Alzheimer's Disease and CADASIL-Related Cerebral Small Vessel Disease. Molecular Neurobiology, 59(12), pp. 7293-7302.; https://eprints.qut.edu.au/235690Test/; Centre for Genomics and Personalised Health; Academic Division; Faculty of Health; School of Biomedical Sciences

الإتاحة: https://doi.org/10.1007/s12035-022-03039-3Test
https://eprints.qut.edu.au/235690Test/

المؤلفون: Y Chen, Bhupinder Pal, GJ Lindeman, JE Visvader, GK Smyth

مصطلحات موضوعية: Uncategorized, Breast Neoplasms, Computational Biology, Gene Expression Profiling, Sequence Analysis, RNA, Single-Cell Analysis, Tumor Microenvironment, Whole Exome Sequencing, Breast cancer, Data integration, Statistical methods

العلاقة: https://figshare.com/articles/journal_contribution/R_code_and_downstream_analysis_objects_for_the_scRNA-seq_atlas_of_normal_and_tumorigenic_human_breast_tissue/19702957Test

الإتاحة: https://doi.org/10.26181/19702957.v1Test
https://figshare.com/articles/journal_contribution/R_code_and_downstream_analysis_objects_for_the_scRNA-seq_atlas_of_normal_and_tumorigenic_human_breast_tissue/19702957Test