المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000180Test; https://doaj.org/toc/2666-2477Test; https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100186Test
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52Test

المؤلفون: C Rowlands, HB Thomas, J Lord, HA Wai, G Arno, G Beaman, P Sergouniotis, B Gomes-Silva, C Campbell, N Gossan, C Hardcastle, K Webb, C O’Callaghan, RA Hirst, S Ramsden, E Jones, J Clayton-Smith, AR Webster, JC Ambrose, P Arumugam, R Bevers, M Bleda, F Boardman-Pretty, CR Boustred, H Brittain, MJ Caulfield, GC Chan, T Fowler, A Giess, A Hamblin, S Henderson, TJP Hubbard, R Jackson, LJ Jones, D Kasperaviciute, M Kayikci, A Kousathanas, L Lahnstein, SEA Leigh, IUS Leong, FJ Lopez, F Maleady-Crowe, M McEntagart, F Minneci, L Moutsianas, M Mueller, N Murugaesu, AC Need, P O’Donovan, CA Odhams, C Patch, D Perez-Gil, MB Pereira, J Pullinger, T Rahim, A Rendon, T Rogers, K Savage, K Sawant, RH Scott, A Siddiq, A Sieghart, SC Smith, A Sosinsky, A Stuckey, M Tanguy, AL Taylor Tavares, ERA Thomas, SR Thompson, A Tucci, MJ Welland, E Williams, K Witkowsa, SM Wood, AGL Douglas, RT O’Keefe, WG Newman, D Baralle, GCM Black, JM Ellingford

مصطلحات موضوعية: Uncategorized, Clinical genetics, Disease genetics, Genetic testing, Genetics

العلاقة: 2381/17085908.v1; https://figshare.com/articles/journal_contribution/Comparison_of_in_silico_strategies_to_prioritize_rare_genomic_variants_impacting_RNA_splicing_for_the_diagnosis_of_genomic_disorders/17085908Test

الإتاحة: https://figshare.com/articles/journal_contribution/Comparison_of_in_silico_strategies_to_prioritize_rare_genomic_variants_impacting_RNA_splicing_for_the_diagnosis_of_genomic_disorders/17085908Test

المؤلفون: V. Proserpio, A. Piccolo, L. Haim Vilmovsky, G. Kar, T. Lnnberg, V. Svensson, J. Pramanik, K. Natarajan, W. Zhai, X. Zhang, G. Donati, M. Kayikci, J. Kotar, A. N. Mckenzie, R. Montandon, O. Billker, S. Woodhouse, P. Cicuta, S. A. Teichmann∗, NICODEMI, MARIO

المساهمون: V., Proserpio, A., Piccolo, L., Haim Vilmovsky, G., Kar, T., Lnnberg, V., Svensson, J., Pramanik, K., Natarajan, W., Zhai, X., Zhang, G., Donati, M., Kayikci, J., Kotar, A. N., Mckenzie, R., Montandon, O., Billker, S., Woodhouse, P., Cicuta, Nicodemi, Mario, S. A., Teichmann∗

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000375963300001; volume:17; firstpage:103; numberofpages:15; journal:GENOME BIOLOGY; http://hdl.handle.net/11588/659451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84968883790; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-0957-5Test

الإتاحة: https://doi.org/10.1186/s13059-016-0957-5Test
http://hdl.handle.net/11588/659451Test

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

المساهمون: Queen Mary University of London (QMUL), European Bioinformatics Institute Hinxton (EMBL-EBI), EMBL Heidelberg, The Jackson Laboratory Bar Harbor (JAX), Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania, The Hospital for sick children Toronto (SickKids), Mount Sinai Hospital Toronto, Canada (MSH), MRC Harwell Institute UK, Helmholtz Zentrum München = German Research Center for Environmental Health, Institut Clinique de la Souris (ICS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), French National Infrastructure for Mouse Phenogenomics (PHENOMIN), Institute of Molecular Genetics of the Czech Academy of Sciences (IMG / CAS), Czech Academy of Sciences Prague (CAS), The Wellcome Trust Sanger Institute Cambridge, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), CNR - Italian National Research Council (CNR), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), German Center for Diabetes Research - Deutsches Zentrum für Diabetesforschung Neuherberg (DZD), University of California Davis (UC Davis), University of California (UC), J C Ambrose, P Arumugam, E L Baple, M Bleda, F Boardman-Pretty, J M Boissiere, C R Boustred, H Brittain, M J Caulfield, G C Chan, C E H Craig, L C Daugherty, A de Burca, A Devereau, G Elgar, R E Foulger, T Fowler, P Furió-Tarí, J M Hackett, D Halai, A Hamblin, S Henderson, J E Holman, T J P Hubbard, K Ibáñez, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, L Lahnstein, K Lawson, S E A Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, J Mason, E M McDonagh, L Moutsianas, M Mueller, N Murugaesu, A C Need, C A Odhams, C Patch, D Perez-Gil, D Polychronopoulos, J Pullinger, T Rahim, A Rendon, P Riesgo-Ferreiro, T Rogers, M Ryten, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, K R Smith, A Sosinsky, W Spooner, H E Stevens, A Stuckey, R Sultana, E R A Thomas, S R Thompson, C Tregidgo, A Tucci, E Walsh, S A Watters, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki, Susan Marschall, Christoph Lengger, Holger Maier, Claudia Seisenberger, Antje Bürger, Ralf Kühn, Joel Schick, Andreas Hörlein, Oskar Oritz, Florian Giesert, Joachim Beig, Janet Kenyon, Gemma Codner, Martin Fray, Sara J Johnson, James Cleak, Zsombor Szoke-Kovacs, David Lafont, Valerie E Vancollie, Robbie S B McLaren, Lena Hughes-Hallett, Christine Rowley, Emma Sanderson, Antonella Galli, Elizabeth Tuck, Angela Green, Catherine Tudor, Emma Siragher, Monika Dabrowska, Cecilia Icoresi Mazzeo, Mark Griffiths, David Gannon, Brendan Doe, Nicola Cockle, Andrea Kirton, Joanna Bottomley, Catherine Ingle, Edward Ryder, Diane Gleeson, Ramiro Ramirez-Solis, Marie-Christine Birling, Guillaume Pavlovic, Abdel Ayadi, Meziane Hamid, Ghina Bou About, Marie-France Champy, Hugues Jacobs, Olivia Wendling, Sophie Leblanc, Laurent Vasseur, Elissa J Chesler, Vivek Kumar, Jacqueline K White, Karen L Svenson, Jean-Paul Wiegand, Laura L Anderson, Troy Wilcox, James Clark, Jennifer Ryan, James Denegre, Tim Stearns, Vivek Philip, Catherine Witmeyer, Lindsay Bates, Zachary Seavey, Pamela Stanley, Amelia Willet, Willson Roper, Julie Creed, Michayla Moore, Alex Dorr, Pamelia Fraungruber, Rose Presby, Matthew Mckay, Dong Nguyen-Bresinsky, Leslie Goodwin, Rachel Urban, Coleen Kane, ANR-10-INBS-0007,PHENOMIN,INFRASTRUCTURE NATIONALE EN PHENOGENOMIQUE SOURIS(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32005800; hal-03065535; https://hal.science/hal-03065535Test; https://hal.science/hal-03065535/documentTest; https://hal.science/hal-03065535/file/PDF%20Datastream.pdfTest; PUBMED: 32005800; PUBMEDCENTRAL: PMC6994715

الإتاحة: https://doi.org/10.1038/s41467-020-14284-2Test
https://hal.science/hal-03065535Test
https://hal.science/hal-03065535/documentTest
https://hal.science/hal-03065535/file/PDF%20Datastream.pdfTest

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

المساهمون: Queen Mary University of London (QMUL), European Bioinformatics Institute Hinxton (EMBL-EBI), EMBL Heidelberg, The Jackson Laboratory Bar Harbor (JAX), Baylor College of Medicine (BCM), Baylor University, University of Pennsylvania, The Hospital for sick children Toronto (SickKids), Mount Sinai Hospital Toronto, Canada (MSH), MRC Harwell Institute UK, Helmholtz Zentrum München = German Research Center for Environmental Health (HMGU), Institut Clinique de la Souris (ICS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), French National Infrastructure for Mouse Phenogenomics (PHENOMIN), Institute of Molecular Genetics of the Czech Academy of Sciences (IMG / CAS), Czech Academy of Sciences Prague (CAS), The Wellcome Trust Sanger Institute Cambridge, Technische Universität Munchen - Technical University Munich - Université Technique de Munich (TUM), Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), CNR - Italian National Research Council (CNR), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), German Center for Diabetes Research - Deutsches Zentrum für Diabetesforschung Neuherberg (DZD), University of California Davis (UC Davis), University of California (UC), J C Ambrose, P Arumugam, E L Baple, M Bleda, F Boardman-Pretty, J M Boissiere, C R Boustred, H Brittain, M J Caulfield, G C Chan, C E H Craig, L C Daugherty, A de Burca, A Devereau, G Elgar, R E Foulger, T Fowler, P Furió-Tarí, J M Hackett, D Halai, A Hamblin, S Henderson, J E Holman, T J P Hubbard, K Ibáñez, R Jackson, L J Jones, D Kasperaviciute, M Kayikci, L Lahnstein, K Lawson, S E A Leigh, I U S Leong, F J Lopez, F Maleady-Crowe, J Mason, E M McDonagh, L Moutsianas, M Mueller, N Murugaesu, A C Need, C A Odhams, C Patch, D Perez-Gil, D Polychronopoulos, J Pullinger, T Rahim, A Rendon, P Riesgo-Ferreiro, T Rogers, M Ryten, K Savage, K Sawant, R H Scott, A Siddiq, A Sieghart, K R Smith, A Sosinsky, W Spooner, H E Stevens, A Stuckey, R Sultana, E R A Thomas, S R Thompson, C Tregidgo, A Tucci, E Walsh, S A Watters, M J Welland, E Williams, K Witkowska, S M Wood, M Zarowiecki, Susan Marschall, Christoph Lengger, Holger Maier, Claudia Seisenberger, Antje Bürger, Ralf Kühn, Joel Schick, Andreas Hörlein, Oskar Oritz, Florian Giesert, Joachim Beig, Janet Kenyon, Gemma Codner, Martin Fray, Sara J Johnson, James Cleak, Zsombor Szoke-Kovacs, David Lafont, Valerie E Vancollie, Robbie S B McLaren, Lena Hughes-Hallett, Christine Rowley, Emma Sanderson, Antonella Galli, Elizabeth Tuck, Angela Green, Catherine Tudor, Emma Siragher, Monika Dabrowska, Cecilia Icoresi Mazzeo, Mark Griffiths, David Gannon, Brendan Doe, Nicola Cockle, Andrea Kirton, Joanna Bottomley, Catherine Ingle, Edward Ryder, Diane Gleeson, Ramiro Ramirez-Solis, Marie-Christine Birling, Guillaume Pavlovic, Abdel Ayadi, Meziane Hamid, Ghina Bou About, Marie-France Champy, Hugues Jacobs, Olivia Wendling, Sophie Leblanc, Laurent Vasseur, Elissa J Chesler, Vivek Kumar, Jacqueline K White, Karen L Svenson, Jean-Paul Wiegand, Laura L Anderson, Troy Wilcox, James Clark, Jennifer Ryan, James Denegre, Tim Stearns, Vivek Philip, Catherine Witmeyer, Lindsay Bates, Zachary Seavey, Pamela Stanley, Amelia Willet, Willson Roper, Julie Creed, Michayla Moore, Alex Dorr, Pamelia Fraungruber, Rose Presby, Matthew Mckay, Dong Nguyen-Bresinsky, Leslie Goodwin, Rachel Urban, Coleen Kane, ANR-10-INBS-0007,PHENOMIN,INFRASTRUCTURE NATIONALE EN PHENOGENOMIQUE SOURIS(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32005800; hal-03065535; https://hal.science/hal-03065535Test; https://hal.science/hal-03065535/documentTest; https://hal.science/hal-03065535/file/PDF%20Datastream.pdfTest; PUBMED: 32005800; PUBMEDCENTRAL: PMC6994715

الإتاحة: https://doi.org/10.1038/s41467-020-14284-2Test
https://hal.science/hal-03065535Test
https://hal.science/hal-03065535/documentTest
https://hal.science/hal-03065535/file/PDF%20Datastream.pdfTest