المؤلفون: Chee, Justine M, Lanoue, Louise, Clary, Dave, Higgins, Kendall, Bower, Lynette, Flenniken, Ann, Guo, Ruolin, Adams, David J, Bosch, Fatima, Braun, Robert E, Brown, Steve DM, Chin, H-J Genie, Dickinson, Mary E, Hsu, Chih-Wei, Dobbie, Michael, Gao, Xiang, Galande, Sanjeev, Grobler, Anne, Heaney, Jason D, Herault, Yann, de Angelis, Martin Hrabe, Mammano, Fabio, Nutter, Lauryl MJ, Parkinson, Helen, Qin, Chuan, Shiroishi, Toshi, Sedlacek, Radislav, Seong, J-K, Xu, Ying, Brooks, Brian, McKerlie, Colin, Lloyd, KC Kent, Westerberg, Henrik, Moshiri, Ala

المصدر: BMC Biology. 21(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Pediatric, Biotechnology, Congenital Structural Anomalies, Eye Disease and Disorders of Vision, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Eye, Humans, Mice, Animals, Eye Abnormalities, Anophthalmos, Microphthalmos, Coloboma, Mice, Knockout, Embryonic Development, Phenotype, Mammals, MAC spectrum, Eye development, Mouse, IMPC, Serine-glycine biosynthesis, CPLANE, International Mouse Phenotyping Consortium, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/65r778p9Test

المؤلفون: Lana-Elola, Eva, Aoidi, Rifdat, Llorian, Miriam, Gibbins, Dorota, Buechsenschuetz, Callan, Bussi, Claudio, Flynn, Helen, Gilmore, Tegan, Watson-Scales, Sheona, Haugsten Hansen, Marie, Hayward, Darryl, Song, Ok-Ryul, Brault, Véronique, Herault, Yann, Deau, Emmanuel, Meijer, Laurent, Snijders, Ambrosius P, Gutierrez, Maximiliano G, Fisher, Elizabeth MC, Tybulewicz, Victor LJ

المصدر: Science Translational Medicine , 16 (731) , Article eadd6883. (2024)

مصطلحات موضوعية: Animals, Humans, Mice, Disease Models, Animal, Down Syndrome, Genes, Mitochondrial, Heart Defects, Congenital, Myocytes, Cardiac, Trisomy

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187334/1/Lana-Elola%20Aoidi%20STM%20rev%203%20Main%20%20%20Supp%20VT021223%20CLEAN%20FINAL%20SUBMISSION%20FOR%20UCL.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187334Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187334/1/Lana-Elola%20Aoidi%20STM%20rev%203%20Main%20%20%20Supp%20VT021223%20CLEAN%20FINAL%20SUBMISSION%20FOR%20UCL.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187334Test/

المؤلفون: Jimenez-Armijo, Alexandra, Morkmued, Supawich, Ahumada, José Tomás, Kharouf, Naji, de Feraudy, Yvan, Gogl, Gergo, Riet, Fabrice, Niederreither, Karen, Laporte, Jocelyn, Birling, Marie Christine, Selloum, Mohammed, Herault, Yann, Hernandez, Magali, Bloch-Zupan, Agnès

المساهمون: Patients’ support group Pierre-Henri et ses amis, Agencia Nacional de Investigación y Desarrollo, Agence Nationale de la Recherche, Interdisciplinary Thematic Institute IMCBio, European Regional Development Fund (ERDF) of the European Union, Institut National de la Santé et de la Recherche Médicale, AFM-Téléthon, Filière TETECOU, French Ministry of Health, University Hospital of Strasbourg

المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-50870-2Test
https://www.nature.com/articles/s41598-023-50870-2.pdfTest
https://www.nature.com/articles/s41598-023-50870-2Test

المؤلفون: BUGUENO Isaac, Maximiliano, REY, Tristan, JIMENEZ-ARMIJO, Alexandra, KAWCZYNSKI, Marzena, KHAROUF, Naji, MANIÈRE, Marie-Cécile, HERAULT, Yann, BLOCH-ZUPAN, Agnès, HAUSHALTER-LAUGEL, Virginie

المصدر: Genes & Diseases ; page 101303 ; ISSN 2352-3042

الإتاحة: https://doi.org/10.1016/j.gendis.2024.101303Test
https://api.elsevier.com/content/article/PII:S2352304224001004?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352304224001004?httpAccept=text/plainTest

المؤلفون: Higgins, Kendall, Moore, Bret A, Berberovic, Zorana, Adissu, Hibret A, Eskandarian, Mohammad, Flenniken, Ann M, Shao, Andy, Imai, Denise M, Clary, Dave, Lanoue, Louise, Newbigging, Susan, Nutter, Lauryl MJ, Adams, David J, Bosch, Fatima, Braun, Robert E, Brown, Steve DM, Dickinson, Mary E, Dobbie, Michael, Flicek, Paul, Gao, Xiang, Galande, Sanjeev, Grobler, Anne, Heaney, Jason D, Herault, Yann, de Angelis, Martin Hrabe, Chin, Hsian-Jean Genie, Mammano, Fabio, Qin, Chuan, Shiroishi, Toshihiko, Sedlacek, Radislav, Seong, J-K, Xu, Ying, Lloyd, KC Kent, McKerlie, Colin, Moshiri, Ala

المصدر: Scientific Reports. 12(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mice, Animals, Mice, Knockout, Ciliopathies, Gene Knockout Techniques, Cilia, Databases, Factual, Nerve Tissue Proteins, Cell Cycle Proteins, IMPC Consortium

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/36x68857Test

المؤلفون: Dierssen, Mara, Herault, Yann, Helguera, Pablo, Martínez de Lagran, Maria, Vazquez, Anna, Christian, Bradley, Carmona-Iragui, Maria, Wiseman, Frances, Mobley, William, Fisher, Elizabeth MC, Brault, Veronique, Esbensen, Anna, Jacola, Lisa M, Potier, Marie Claude, Hamlett, Eric D, Abbeduto, Leonard, Del Hoyo Soriano, Laura, Busciglio, Jorge, Iulita, Maria Florencia, Crispino, John, Malinge, Sébastien, Barone, Eugenio, Perluigi, Marzia, Costanzo, Floriana, Delabar, Jean Maurice, Bartesaghi, Renata, Dekker, Alain D, De Deyn, Peter, Fortea Ormaechea, Juan, Shaw, Patricia A, Haydar, Tarik F, Sherman, Stephanie L, Strydom, André, Bhattacharyya, Anita

المصدر: Molecular syndromology. 12(4)

مصطلحات موضوعية: Alzheimer's disease, Biomarkers, Down syndrome, Intellectual disability, Language impairment, Mouse models, Neurodevelopmental disorders, Trisomy 21 Research Society, Alzheimer’, s disease, Down Syndrome, Neurosciences, Brain Disorders, Cancer, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Genetics, Clinical Sciences

الوصول الحر: https://escholarship.org/uc/item/87d9h671Test

المؤلفون: Lloyd, KC Kent, Adams, David J, Baynam, Gareth, Beaudet, Arthur L, Bosch, Fatima, Boycott, Kym M, Braun, Robert E, Caulfield, Mark, Cohn, Ronald, Dickinson, Mary E, Dobbie, Michael S, Flenniken, Ann M, Flicek, Paul, Galande, Sanjeev, Gao, Xiang, Grobler, Anne, Heaney, Jason D, Herault, Yann, de Angelis, Martin Hrabě, Lupski, James R, Lyonnet, Stanislas, Mallon, Ann-Marie, Mammano, Fabio, MacRae, Calum A, McInnes, Roderick, McKerlie, Colin, Meehan, Terrence F, Murray, Stephen A, Nutter, Lauryl MJ, Obata, Yuichi, Parkinson, Helen, Pepper, Michael S, Sedlacek, Radislav, Seong, Je Kyung, Shiroishi, Toshihiko, Smedley, Damian, Tocchini-Valentini, Glauco, Valle, David, Wang, Chi-Kuang Leo, Wells, Sara, White, Jacqueline, Wurst, Wolfgang, Xu, Ying, Brown, Steve DM

المصدر: Genome Biology. 21(1)

مصطلحات موضوعية: Animals, Genes, Genome, Humans, Mice, Mutation, Phenotype, Proteins, Environmental Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9js9j27mTest

المؤلفون: Zhang, Tao, Xie, Pancheng, Dong, Yingying, Liu, Zhiwei, Zhou, Fei, Pan, Dejing, Huang, Zhengyun, Zhai, Qiaocheng, Gu, Yue, Wu, Qingyu, Tanaka, Nobuhiko, Obata, Yuichi, Bradley, Allan, Lelliott, Christopher J, Nutter, Lauryl MJ, McKerlie, Colin, Flenniken, Ann M, Champy, Marie-France, Sorg, Tania, Herault, Yann, De Angelis, Martin Hrabe, Durner, Valerie Gailus, Mallon, Ann-Marie, Brown, Steve DM, Meehan, Terry, Parkinson, Helen E, Smedley, Damian, Lloyd, KC Kent, Yan, Jun, Gao, Xiang, Seong, Je Kyung, Wang, Chi-Kuang Leo, Sedlacek, Radislav, Liu, Yi, Rozman, Jan, Yang, Ling, Xu, Ying

المصدر: PLOS Genetics. 16(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Sleep Research, Genetics, Neurosciences, Amino Acid Transport System y+, Animals, Circadian Rhythm, Machine Learning, Male, Mice, Mice, Inbred C57BL, Mutation, Receptors, Oxytocin, Repressor Proteins, Serine Endopeptidases, Telomere-Binding Proteins, Ubiquitin-Protein Ligase Complexes, Sanger Institute Mouse Genetics Project, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1r54z5nmTest

المؤلفون: Cacheiro, Pilar, Muñoz-Fuentes, Violeta, Murray, Stephen A, Dickinson, Mary E, Bucan, Maja, Nutter, Lauryl MJ, Peterson, Kevin A, Haselimashhadi, Hamed, Flenniken, Ann M, Morgan, Hugh, Westerberg, Henrik, Konopka, Tomasz, Hsu, Chih-Wei, Christiansen, Audrey, Lanza, Denise G, Beaudet, Arthur L, Heaney, Jason D, Fuchs, Helmut, Gailus-Durner, Valerie, Sorg, Tania, Prochazka, Jan, Novosadova, Vendula, Lelliott, Christopher J, Wardle-Jones, Hannah, Wells, Sara, Teboul, Lydia, Cater, Heather, Stewart, Michelle, Hough, Tertius, Wurst, Wolfgang, Sedlacek, Radislav, Adams, David J, Seavitt, John R, Tocchini-Valentini, Glauco, Mammano, Fabio, Braun, Robert E, McKerlie, Colin, Herault, Yann, de Angelis, Martin Hrabě, Mallon, Ann-Marie, Lloyd, KC Kent, Brown, Steve DM, Parkinson, Helen, Meehan, Terrence F, Smedley, Damian

المصدر: Nature Communications. 11(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Human Genome, Prevention, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Good Health and Well Being, Animals, Disease, Genes, Essential, Genetic Association Studies, Genomics, Humans, Mice, Mice, Knockout, Genomics England Research Consortium, International Mouse Phenotyping Consortium

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/00f1p0svTest

المؤلفون: Swan, Anna L, Schütt, Christine, Rozman, Jan, del Mar Muñiz Moreno, Maria, Brandmaier, Stefan, Simon, Michelle, Leuchtenberger, Stefanie, Griffiths, Mark, Brommage, Robert, Keskivali-Bond, Piia, Grallert, Harald, Werner, Thomas, Teperino, Raffaele, Becker, Lore, Miller, Gregor, Moshiri, Ala, Seavitt, John R, Cissell, Derek D, Meehan, Terrence F, Acar, Elif F, Lelliott, Christopher J, Flenniken, Ann M, Champy, Marie-France, Sorg, Tania, Ayadi, Abdel, Braun, Robert E, Cater, Heather, Dickinson, Mary E, Flicek, Paul, Gallegos, Juan, Ghirardello, Elena J, Heaney, Jason D, Jacquot, Sylvie, Lally, Connor, Logan, John G, Teboul, Lydia, Mason, Jeremy, Spielmann, Nadine, McKerlie, Colin, Murray, Stephen A, Nutter, Lauryl MJ, Odfalk, Kristian F, Parkinson, Helen, Prochazka, Jan, Reynolds, Corey L, Selloum, Mohammed, Spoutil, Frantisek, Svenson, Karen L, Vales, Taylor S, Wells, Sara E, White, Jacqueline K, Sedlacek, Radislav, Wurst, Wolfgang, Lloyd, KC Kent, Croucher, Peter I, Fuchs, Helmut, Williams, Graham R, Bassett, JH Duncan, Gailus-Durner, Valerie, Herault, Yann, Mallon, Ann-Marie, Brown, Steve DM, Mayer-Kuckuk, Philipp, Hrabe de Angelis, Martin

المصدر: PLOS Genetics. 16(12)

مصطلحات موضوعية: Biological Sciences, Genetics, Osteoporosis, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Aetiology, Underpinning research, Musculoskeletal, Animals, Bone Density, Female, Gene Expression Regulation, Gene Ontology, Genetic Pleiotropy, Genome-Wide Association Study, Genotype, Male, Mice, Mice, Transgenic, Mutation, Osteoblasts, Osteoclasts, Phenotype, Promoter Regions, Genetic, Protein Interaction Maps, Sex Characteristics, Transcriptome, IMPC Consortium, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6k44398jTest