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1دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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2دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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3دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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4صورة
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.g001Test
https://figshare.com/articles/figure/Representation_of_main_factors_contributing_to_the_vicious_circle_the_rare_disease_conundrum_that_prevents_the_acceleration_of_rare_disease_clinical_trials_overall_R_D_and_better_outcome_for_PLWRD_/24626492Test -
5صورة
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
العلاقة: https://figshare.com/articles/figure/Different_strategies_adopted_to_drive_gNBS_/24627428Test
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.g004Test
https://figshare.com/articles/figure/Different_strategies_adopted_to_drive_gNBS_/24627428Test -
6صورة
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.g002Test
https://figshare.com/articles/figure/The_S4C_pillars_with_multi-pronged_dual_strategy_to_shorten_RD_diagnosis_/24627422Test -
7صورة
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.g003Test
https://figshare.com/articles/figure/Schematic_representation_of_the_multi-layered_structure_of_S4C_and_its_governance_and_board_composition_to_ensure_appropriate_levels_of_cooperation_scientific_exchange_multi-stakeholder_engagement_dialogue_and_cooperation_with_other_initiat/24627425Test -
8
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.t002Test
https://figshare.com/articles/dataset/Expected_impact_of_Screen4Care_on_patients_research_healthcare_and_society_/24627434Test -
9
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
مصطلحات موضوعية: Medicine, Genetics, Biotechnology, Sociology, Science Policy, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, neonatal screening strategy, diagnostic “ window, european union commission, different european countries, symptom checkers <, whole genome sequencing, div >< p, large european population, based newborn screening, new digital tools, leverage artificial intelligence, genetic newborn screening, europe p, project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout
الإتاحة: https://doi.org/10.1371/journal.pone.0293503.t001Test
https://figshare.com/articles/dataset/The_Wilson_and_Jungner_s_principles_for_the_early_detection_of_disease_and_the_5_Recommendations_for_RDs_/24627431Test