المؤلفون: Antonio Novelli, Alessandra Ferlini, Ferdinand Knieling, Brett Hauber, Jorien Veldwijk, Mats Hansson, Janbernd Kirschner, Åsa Grauman, Sylvia MARTIN, Emanuele Angolini, Jennifer Audi, Dr. Enrico Bertini, Lucia Pia Bruno, Joshua Coulter, Fernanda Fortunato, Vera Frankova, Nicolas Garnier, Edith Gross, Gergana Kyosovksa, Silvia Ottombrino, Roman Raming, Stefaan Sansen, Christina Saier

المصدر: BMJ Open, Vol 14, Iss 4 (2024)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://bmjopen.bmj.com/content/14/4/e081835.fullTest; https://doaj.org/toc/2044-6055Test

الوصول الحر: https://doaj.org/article/d2f7ca79e557453aa7cd102867751306Test

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

المصدر: PLoS ONE, Vol 18, Iss 11, p e0293503 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printableTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/b1398ce8c27f41afbbe124544bb3d5b6Test

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 , project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout

العلاقة: 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

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

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 , 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

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 , project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout

العلاقة: https://figshare.com/articles/figure/The_S4C_pillars_with_multi-pronged_dual_strategy_to_shorten_RD_diagnosis_/24627422Test

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

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 , project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout

العلاقة: 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

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

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 , project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout

العلاقة: https://figshare.com/articles/dataset/Expected_impact_of_Screen4Care_on_patients_research_healthcare_and_society_/24627434Test

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

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 , project protocol based, artificial intelligence, european federation, based tools, ehr <, targeted sequencing, research project, large workout

العلاقة: https://figshare.com/articles/dataset/The_Wilson_and_Jungner_s_principles_for_the_early_detection_of_disease_and_the_5_Recommendations_for_RDs_/24627431Test

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

المؤلفون: Antonio Greco, Mauro Ceccanti, Diego De Angelis, Marco Fiore, Luigi Tarani, Valentina Carito, Silvia Ottombrino, Ginevra Micangeli, Natascia Liberati, Debora Rasio

المصدر: Biomedical Reviews (Varna. Online) 29 (2018): 37–46. doi:10.14748/bmr.v29.5848
info:cnr-pdr/source/autori:Tarani L, Micangeli G, Rasio D, Ottombrino S, Liberati N, De Angelis D, Carito V, Greco A, Ceccanti M, Fiore M/titolo:CLINICAL AND GENETIC APPROACH TO THE DYSMORPHIC CHILD/doi:10.14748%2Fbmr.v29.5848/rivista:Biomedical Reviews (Varna. Online)/anno:2018/pagina_da:37/pagina_a:46/intervallo_pagine:37–46/volume:29

مصطلحات موضوعية: medicine.medical_specialty, treatment, Genetic syndromes, diagnosis, business.industry, birth defect, 05 social sciences, pediatrician, General Medicine, Multidisciplinary team, medicine.disease, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Social integration, Malformative syndrome, Medicine, 0501 psychology and cognitive sciences, genetic syndrome, 050102 behavioral science & comparative psychology, business, Intensive care medicine, Rare disease, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b2616e41895442dbe9cefde86f4765Test
https://doi.org/10.14748/bmr.v29.5848Test