Risultati della ricerca - Nicolas Garcelon

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  1. 1
    Electronic health records for the diagnosis of rare diseases

    Electronic health records for the diagnosis of rare diseases di Nicolas Garcelon, Anita Burgun, Rémi Salomon, Antoine Neuraz

    Pubblicazione 2020
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  2. 2
    Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease

    Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease di Dominique P. Germain, David Gruson, Marie Malcles, Nicolas Garcelon

    Pubblicazione 2025
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  3. 3
    Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse

    Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse di Nicolas Garcelon, Antoine Neuraz, Vincent Benoît, Rémi Salomon, Anita Burgun

    Pubblicazione 2016
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  4. 4
    A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse

    A clinician friendly data warehouse oriented toward narrative reports: Dr. Warehouse di Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Hassan Faour, Vincent Benoît, Arthur Delapalme, Arnold Münnich, Anita Burgun, Bastien Rance

    Pubblicazione 2018
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  5. 5
    Diagnosis support systems for rare diseases: a scoping review

    Diagnosis support systems for rare diseases: a scoping review di Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

    Pubblicazione 2020
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  6. 6
    Hepatobiliary Complications in Children with Sickle Cell Disease: A Retrospective Review of Medical Records from 616 Patients

    Hepatobiliary Complications in Children with Sickle Cell Disease: A Retrospective Review of Medical Records from 616 Patients di Slimane Allali, Mariane de Montalembert, Valentine Brousse, Claire Heilbronner, Mélissa Taylor, Joséphine Brice, E. Manzali, Nicolas Garcelon, Florence Lacaille

    Pubblicazione 2019
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  7. 7
    Evidence for a MAIT-17–high phenotype in children with severe asthma

    Evidence for a MAIT-17–high phenotype in children with severe asthma di Guillaume Lezmi, Rola Abou‐Taam, Nicolas Garcelon, Céline Dietrich, François Machavoine, Christophe Delacourt, Karine Adel‐Patient, Maria Leite‐de‐Moraes

    Pubblicazione 2019
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  8. 8
    Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

    Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack di Nicolas Garcelon, Antoine Neuraz, Vincent Benoît, Rémi Salomon, Sven Kracker, Felipe Suárez, Nadia Bahi‐Buisson, S. Hadj‐Rabia, Alain Fischer, Arnold Münnich, Anita Burgun

    Pubblicazione 2017
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  9. 9
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases di Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    Pubblicazione 2011
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  10. 10
    Deep Learning on Bone Scintigraphy to Detect Abnormal Cardiac Uptake at Risk of Cardiac Amyloidosis

    Deep Learning on Bone Scintigraphy to Detect Abnormal Cardiac Uptake at Risk of Cardiac Amyloidosis di M.A. Delbarre, François Girardon, Lucien Roquette, Paul Blanc‐Durand, Marc-Antoine Hubaut, É. Hachulla, Franck Semah, D. Huglo, Nicolas Garcelon, E. Marchal, I. El Esper, Christophe Tribouilloy, Nicolas Lamblin, P. Duhaut, Jean M. Schmidt, Emmanuel Itti, Thibaud Damy

    Pubblicazione 2023
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  11. 11
    Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023)

    Charting a course for global progress in PIDs by 2030 — proceedings from the IPOPI global multi-stakeholders’ summit (September 2023) di Samya Van Coillie, J Prévot, Silvia Sánchez‐Ramón, David M. Lowe, Michael Borg, Brigitte Autran, Gesmar Rodrigues Silva Segundo, Antonio Pecoraro, Nicolas Garcelon, Cornelis Boersma, Susana L. Silva, Jose Drabwell, Isabella Quinti, Isabelle Meyts, Adli Ali, Siobhán O. Burns, Martin van Hagen, Martine Pergent, Nizar Mahlaoui

    Pubblicazione 2024
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  12. 12
    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum di Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Névo, Evelyne Huynh-Cong, Vincent Morinière, Raphaëlle Campait, Elisabet Ars, Damien Brackman, Jacques Dantal, Philippe Eckart, Maddalena Gigante, Beata S. Lipska‐Ziętkiewicz, A. Liutkus, André Mégarbané, Nabil Mohsin, Fatih Özaltın, Moin A. Saleem, Franz Schaefer, Kenza Soulami, Roser Torrá, Nicolas Garcelon, Géraldine Mollet, Karin Dahan, Corinne Antignac

    Pubblicazione 2013
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  13. 13
    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

    Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome di Quentin Hennocq, Marjolaine Willems, Jeanne Amiel, Stéphanie Arpin, Tania Attié‐Bitach, Thomas Bongibault, Thomas Bouygues, Valérie Cormier‐Daire, Pierre Corre, Klaus Dieterich, Maxime Douillet, Jean Feydy, E. Galliani, Fabienne Giuliano, Stanislas Lyonnet, Arnaud Picard, Thantrira Porntaveetus, Marlène Rio, Flavien Rouxel, Vorasuk Shotelersuk, Annick Toutain, Kévin Yauy, David Geneviève, Roman Hossein Khonsari, Nicolas Garcelon

    Pubblicazione 2024
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  14. 14
    Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children

    Genotype-Phenotype Correlations in Denys-Drash Syndrome in Children di Mathilde Glénisson, Mathilde Grapin, Thomas Blanc, Evgenia Preka, Julien Hogan, Manon Aurelle, G. Roussey, Antoine Mouche, Caroline Rousset‐Rouvière, Robert Novo, Camille Faudeux, Marc Fila, Isabelle Vrillon, Sylvie Cloarec, Tabassome Simon, Jérôme Harambat, Edouard Martinez Casado, Julien Rod, Morgane Carre Lecoindre, Laurence Heidet, Olivia Boyer, Nicolas Garcelon, Jessica Kachmar, Guillaume Dorval, Sabine Sarnacki

    Pubblicazione 2025
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  15. 15
    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes

    Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes di Jérôme Hadjadj, Nathalie Aladjidi, Helder Fernandes, Guy Leverger, Aude Magérus‐Chatinet, Fabienne Mazerolles, Marie–Claude Stolzenberg, Sidonie Jacques, Capucine Pïcard, Jérémie Rosain, Cécile Fourrage, Sylvain Hanein, Mohammed Zarhrate, Marlène Pasquet, Wadih Abou Chahla, Vincent Barlogis, Yves Bertrand, Isabelle Pellier, Elodie Colomb Bottollier, Fanny Fouyssac, Pascale Blouin, Caroline Thomas, Nathalie Cheikh, Éric Doré, Corinne Pondarré, Dominique Plantaz, Éric Jeziorski, Frédéric Millot, Nicolas Garcelon, Stéphane Ducassou, Yves Pérel, Thierry Leblanc, Bénédicte Neven, Alain Fischer, Frédéric Rieux‐Laucat

    Pubblicazione 2019
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  16. 16
    Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes

    Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes di Laura Polivka, Marine Madrange, C. Bulaï Livideanu, Stéphane Barete, Thomas Ballul, Antoine Neuraz, Céline Greco, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Charles Burdet, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, C. Gourguechon, Ghandi Damaj, Laurent Frenzel, C. Méni, Hassiba Bouktit, Anne Florence Collange, C. Gaudy‐Marqueste, Marie Gousseff, Edwige Le Mouel, M. Hamidou, A. Néel, Dana Ranta, R. Jaussaud, Philippe Guilpain, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Ludovic Lhermitte, Nicolas Garcelon, Rose‐Marie Javier, F. Pelletier, Florence Castelain, F. Rétornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, E. Wierzbicka-Hainaut, Jean‐François Viallard, Christian Lavigne, C. Hoarau, I. Durieu, Maël Heiblig, Sophie Dimicoli‐Salazar, José Miguel Torregrosa-Diaz, A. Soria, Michel Arock, Olivier Lortholary, Christine Bodemer, Olivier Hermine, Julien Rossignol

    Pubblicazione 2023
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  17. 17
    External validation of prognostic scores for COVID-19: a multicenter cohort study of patients hospitalized in Greater Paris University Hospitals

    External validation of prognostic scores for COVID-19: a multicenter cohort study of patients hospitalized in Greater Paris University Hospitals di Yannis Lombardi, L. Azoyan, Piotr Szychowiak, Ali Bellamine, Guillaume Lemaître, Mélodie Bernaux, Christel Daniel, Judith Leblanc, Quentin Riller, O. Steichen, Pierre‐Yves Ancel, Alain Bauchet, Nathanaël Beeker, Vincent Benoît, Romain Bey, Aurélie Bourmaud, Stéphane Bréant, Anita Burgun, Fabrice Carrat, Charlotte Caucheteux, Julien Champ, Sylvie Cormont, Julien Dubiel, Catherine Duclos, Loïc Estève, Marie Frank, Nicolas Garcelon, Alexandre Gramfort, Nicolas Griffon, Olivier Grisel, Martin Guilbaud, Claire Hassen‐Khodja, F. Hémery, Martin Hilka, Anne‐Sophie Jannot, Jérôme Lambert, Richard Layese, Léo Lebouter, Damien Leprovost, Ivan Lerner, Kankoé Lévi Sallah, Aurélien Maire, Marie‐France Mamzer, Patricia Martel, Arthur Mensch, Thomas Moreau, Antoine Neuraz, Nina Orlova, Nicolás Paris, Bastien Rance, Hélène Ravera, Antoine Rozes, Pierre Rufat, Elisa Salamanca, Arnaud Sandrin, Patricia Serre, Xavier Tannier, Jean‐Marc Tréluyer, Damien Van Gysel, Gaël Varoquaux, Jill-Jênn Vie, Maxime Wack, Perceval Wajsbürt, Demián Wassermann, Éric Zapletal

    Pubblicazione 2021
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  18. 18
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies di Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    Pubblicazione 2023
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