Determinants of dental care use in patients with rare diseases: a qualitative exploration nork Lisa Friedlander, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method nork Lisa Friedlander, Marc Vincent, Ariane Berdal, Valérie Cormier-Daire, Stanislas Lyonnet, Nicolas Garcelon

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Correction: Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS) nork Ivan Lerner, Arnaud Serret-Larmande, Bastien Rance, Nicolas Garcelon, Anita Burgun, Laurent Chouchana, Antoine Neuraz

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Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS) nork Ivan Lerner, Arnaud Serret-Larmande, Bastien Rance, Nicolas Garcelon, Anita Burgun, Laurent Chouchana, Antoine Neuraz

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Humanitarian Facial Recognition for Rare Craniofacial Malformations nork Quentin Hennocq, MD, Thomas Bongibault, MSc, Nicolas Garcelon, PhD, Roman Hossein Khonsari, MD, PhD

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

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Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and se... nork Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen, Anita Burgun

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Allograft function and muscle mass evolution after kidney transplantation nork François Gaillard, Mélissa Ould Rabah, Nicolas Garcelon, Malik Touam, Antoine Neuraz, Christophe Legendre, Dany Anglicheau, Dominique Prié, Frank Bienaimé

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Evaluation of Hydroxychloroquine Blood Concentrations and Effects in Childhood-Onset Systemic Lupus Erythematosus nork Noël Zahr, Saik Urien, Christian Funck-Brentano, Hélène Vantomme, Nicolas Garcelon, Isabelle Melki, Margaux Boistault, Olivia Boyer, Brigitte Bader-Meunier

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A Comprehensive Analysis of Immune Constituents in Blood and Bronchoalveolar Lavage Allows Identification of an Immune Signature of Severe Asthma in Children nork Karine Adel-Patient, Marta Grauso, Rola Abou-Taam, Blanche Guillon, Céline Dietrich, François Machavoine, Mélanie Briard, Nicolas Garcelon, Nicolas Garcelon, Hassan Faour, Hassan Faour, Antoine Neuraz, Antoine Neuraz, Christophe Delacourt, Thierry Jo Molina, Thierry Jo Molina, Maria Leite-de-Moraes, Guillaume Lezmi, Guillaume Lezmi

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Healthcare trajectory of children with rare bone disease attending pediatric emergency departments nork David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant

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Natural history of Myhre syndrome nork David Dawei Yang, Marlene Rio, Caroline Michot, Nathalie Boddaert, Wael Yacoub, Nicolas Garcelon, Briac Thierry, Damien Bonnet, Sophie Rondeau, Dominique Herve, Stephanie Guey, Francois Angoulvant, Valerie Cormier-Daire

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Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies nork Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Mohamad Zaidan, Katy Billot, Friederike Petzold, Hassan Faour, Maxime Douillet, Jean-Michel Rozet, Valérie Cormier-Daire, Tania Attié-Bitach, Stanislas Lyonnet, Sophie Saunier, Anita Burgun

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BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology nork Guillemette Fouquet, Guillemette Fouquet, Guillemette Fouquet, Julien Rossignol, Laure Ricard, Flavia Guillem, Flavia Guillem, Lucile Couronné, Vahid Asnafi, Manon Vavasseur, Mélanie Parisot, Nicolas Garcelon, Frédéric Rieux-Laucat, Arsène Mekinian, Arsène Mekinian, Olivier Hermine, Olivier Hermine, Olivier Hermine

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Safety and efficacy of brentuximab vedotin as a treatment for lymphoproliferative disorders in primary immunodeficiencies nork Thomas Pincez, Julie Bruneau, Laureline Berteloot, Eve Piekarski, Caroline Thomas, Ambroise Marçais, Amélie Trinquand, Martin Castelle, Nicolas Garcelon, Dominique Plantaz, Morgane Cheminant, Despina Moshous, Thierry Jo Molina, Olivier Hermine, Elizabeth Macintyre, Alain Fischer, Stéphane Blanche, Felipe Suarez, Bénédicte Neven

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

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds. nork Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan

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

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AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes nork Quentin Hennocq, Quentin Hennocq, Quentin Hennocq, Thomas Bongibault, Thomas Bongibault, Sandrine Marlin, Sandrine Marlin, Jeanne Amiel, Jeanne Amiel, Tania Attie-Bitach, Tania Attie-Bitach, Geneviève Baujat, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Stanislas Lyonnet, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Véronique Pingault, Thantrira Porntaveetus, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari, Roman H. Khonsari, Roman H. Khonsari

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Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis nork Julien Rossignol, Sophie Georgin-Lavialle, Danielle Canioni, Omer Beganovic, Chantal Brouzes, Olivier Fain, Maël Heiblig, Clément Gourguechon, Philippe Guilpain, Cristina Bulai-Livideanu, Stéphane Barete, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Catharina Chatain, Ghandi Damaj, Thomas Ballul, Celine Greco, Laura Polivka, Laurent Frenzel, Cécile Meni, Hassiba Bouktit, Dina Benabou, Clotilde Devin, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Antoine Neel, Dana Ranta, Roland Jaussaud, Thierry Jo Molina, Julie Bruneau, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Frederique Retornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jean François Viallard, Christian Lavigne, Cyrille Hoarau, Isabelle Durieu, Sophie Dimicoli-Salazar, Jose Miguel Torregrosa-Diaz, Audrey Duval, Nicolas Garcelon, Jeremie Lespinasse, Angèle Soria, Yannick Chantran, Michel Arock, Christine Bodemer, Olivier Lortholary, Vahid Asnafi, Olivier Hermine, Ludovic Lhermitte

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