Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Nina Bögershausen
,
Vincent Gatinois
,
Vera Riehmer
,
Hulya Kayserili
,
Jutta Becker
et al.
Journal articles
hal-01847014v1
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Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism
Stéphanie Tomé
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Elodie Dandelot
,
Celine Dogan
,
Alexis Bertrand
,
David Geneviève
et al.
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hal-01870349v1
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Real-world effectiveness of pembrolizumab in advanced melanoma: analysis of a French national clinicobiological database
Emilie Casarotto
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Sheenu Chandwani
,
Laurent Mortier
,
Olivier Dereure
,
Caroline Dutriaux
et al.
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hal-03713274v1
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Variants of genes implicated in type 1 interferon pathway and B-cell activation modulate the EULAR response to rituximab at 24 weeks in rheumatoid arthritis
Pierre-Antoine Juge
,
Steven Gazal
,
Arnaud Constantin
,
Xavier Mariette
,
Bernard Combe
et al.
Journal articles
hal-03957011v1
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Classical Ehlers‐Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant
Salma Adham
,
Sophie Dupuis‐girod
,
Etienne Charpentier
,
Jean‐michaël Mazzella
,
Xavier Jeunemaitre
et al.
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hal-03671163v1
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Factors associated with 12 week case-fatality in Staphylococcus aureus bacteraemia: a prospective cohort study
Pierre Braquet
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François Alla
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Catherine Cornu
,
François Goehringer
,
Lionel Piroth
et al.
Journal articles
hal-01417891v1
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Amikacin Liposomal Inhalation Suspension in the Treatment of Mycobacterium abscessus Lung Infection: A French Observational Experience
Raphael Chiron
,
Wouter Hoefsloot
,
Jakko van Ingen
,
Hélène Marchandin
,
Laurent Kremer
et al.
Journal articles
hal-03824298v1
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Is COVID‐19 infection more severe in kidney transplant recipients?
Sophie Caillard
,
Nathalie Chavarot
,
Hélène Francois
,
Marie Matignon
,
Clarisse Greze
et al.
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hal-03371189v1
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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Solveig Heide
,
Sandra Chantot-Bastaraud
,
Boris Keren
,
Madeleine D Harbison
,
Salah Azzi
et al.
Journal articles
hal-02006389v1
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Effect of Moderate Hypothermia vs Normothermia on 30-Day Mortality in Patients With Cardiogenic Shock Receiving Venoarterial Extracorporeal Membrane Oxygenation: A Randomized Clinical Trial
Bruno Levy
,
Nicolas Girerd
,
Julien Amour
,
Emmanuel Besnier
,
Nicolas Nesseler
et al.
Journal articles
hal-03594058v1
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Recommandations pour le fonctionnement des unités de surveillance continue dans les établissements de santé
René Robert
,
Marc Beaussier
,
Dominique Pateron
,
Claude Ecoffey
,
Fanny Denys
et al.
Anesthésie & Réanimation , 2018, 4 (4), pp.265-279
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hal-01959604v1
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Incidence of cervical, breast and colorectal cancers between 2010 and 2015 in people living with HIV in France
Teresa Rojas Rojas
,
Isabelle Poizot-Martin
,
David Rey
,
Claudine Duvivier
,
Firouzé Bani-Sadr
et al.
Journal articles
hal-03711743v1
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Impact of the COVID-19 pandemic on publication dynamics and non-COVID-19 research production
Marc Raynaud
,
Valentin Goutaudier
,
Kevin Louis
,
Solaf Al-Awadhi
,
Quentin Dubourg
et al.
Journal articles
hal-03461100v1
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Insomnia, Daytime Sleepiness and Cardio- Cerebrovascular Diseases in the Elderly: A 6-Year Prospective Study
Isabelle Jaussent
,
Jean-Philippe Empana
,
Marie-Laure Ancelin
,
Alain Besset
,
Catherine Helmer
et al.
Journal articles
hal-02398368v1
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Efficacy, safety and factors associated with disease progression in patients with unresectable (stage III) or distant metastatic (stage IV) BRAF V600-mutant melanoma: An open label, non-randomized, phase IIIb study of trametinib in combination with dabrafenib
Phillippe Saiag
,
Caroline Robert
,
Jean Jacques Grob
,
Laurent Mortier
,
Olivier Dereure
et al.
Journal articles
hal-03401780v1
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Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1
Juliette Berger
,
Marie Vigan
,
Bruno Pereira
,
Thu Thuy Nguyen
,
Roseline Froissart
et al.
Journal articles
hal-02052295v1
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Triaging acute pulmonary embolism for home treatment by Hestia or simplified PESI criteria: the HOME-PE randomized trial
Pierre-Marie Roy
,
Andrea Penaloza
,
Olivier Hugli
,
Frederikus Klok
,
Armelle Arnoux
et al.
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hal-03885526v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
,
Michelle Morrow
,
Catherine Schramm
,
Francisca Millan Zamora
et al.
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hal-03820933v1
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The cellular prion protein controls the mesenchymal-like molecular subtype and predicts disease outcome in colorectal cancer
Delphine Le Corre
,
Alexandre Ghazi
,
Ralyath Balogoun
,
Camilla Pilati
,
Thomas Aparicio
et al.
Journal articles
hal-02305551v1
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Cell-of-Origin (COO) Classification, BCL2 and MYC Expression Associated Outcome in Younger Patients Treated By RCHOP Front-Line Therapy Versus Intensive Regimen Followed By Autologous Transplant for De Novo Advanced Diffuse Large B Cell Lymphoma (DLBCL) : Results of the French Prospective Multicenter Randomized Trial Goelams-075
Gaëlle Laboure
,
Marie-Cecile Parrens
,
Anjarasoa Tsaranazy
,
Magali Bordier
,
Steven Le Gouill
et al.
55th Annual Meeting and Exposition of the American-Society-of-Hematology , Dec 2013, La Nouvelle Orléans, United States. 126 (23), pp.3920, 2015
Conference poster
hal-01290432v1
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Déficiences et handicaps d'origine périnatale : dépistage et prise en charge
Pierre-Yves Ancel
,
Christine Bonnier
,
Antoine Burguet
,
Evelyne Combier
,
Brigitte Estournet-Mathiaud
et al.
[Rapport de recherche] Institut national de la santé et de la recherche médicale(INSERM). 2004, 376 p., figures, tableaux, références bibliographiques
Reports
hal-01570644v1
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SOCRATE-PRODIGE 55 trial: A randomized phase II study to evaluate second-line ramucirumab alone or with paclitaxel in older patients with advanced gastric cancer
Emeric Boisteau
,
Eric François
,
Thomas Aparicio
,
Karine Le Malicot
,
Rabia Boulahssass
et al.
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hal-03632563v1
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Systematic Item Content and Overlap Analysis of Self-reported Multiple Sleep Disorder Screening Questionnaires in Adults
Christophe Gauld
,
Vincent P. Martin
,
Alexandre Richaud
,
Sébastien Baillieul
,
Lucie Vicente
et al.
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hal-03960886v1
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Association between long-term exposure to air pollution and rhinitis and asthma comorbidities in the Constances cohort
Marine Savouré
,
Emeline Lequy
,
Jean Bousquet
,
Kees de Hoogh
,
Marcel Goldberg
et al.
34th Annual Conference of the International Society for Environmental Epidemiology (ISEE) , International Society for Environmental Epidemiology, Sep 2022, Athens, Greece, Greece. pp.O-OP-284,
⟨10.1289/isee.2022.O-OP-284⟩
Conference papers
hal-04032820v1
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Use of insulin degludec, a new basal insulin with an ultra-long duration of action, in basal-bolus therapy in type 1 and type 2 diabetes.
Véronique Kerlan
,
Didier Gouet
,
Michel Marre
,
Eric Renard
Journal articles
hal-00935112v1
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Identification de phénotypes symptomatiques d'arthrose digitale à partir d'une méthode de clustering hiérarchique : résultats de la cohorte DIGICOD
Marie Binvignat
,
Gabriel Pires
,
Nicolas Tchitchek
,
Félicie Costantino
,
Alice Courties
et al.
Congrès de la Société Française de Rhumatologie , Dec 2021, Paris, France
Conference papers
hal-03995677v1
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Endoscopic management of 345 small rectal neuroendocrine tumours: A national study from the French group of endocrine tumours (GTE)
Caroline Fine
,
Guillaume Roquin
,
Eric Terrebonne
,
Thierry Lecomte
,
Romain Coriat
et al.
Journal articles
hal-02549178v1
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Late‐Onset Combined Immune Deficiency: A Subset of Common Variable Immunodeficiency with Severe T Cell Defect
Marion Malphettes
,
Laurence Gérard
,
Maryvonnick Carmagnat
,
Gaël Mouillot
,
Nicolas Vince
et al.
Journal articles
hal-03653638v1
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National Variations in Recent Trends of Sudden Unexpected Infant Death Rate in Western Europe
Sophie de Visme
,
Martin Chalumeau
,
Karine Levieux
,
Hugues Patural
,
Inge Harrewijn
et al.
Journal articles
hal-03032292v1
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Factors associated with the emergence of integrase resistance mutations in patients failing dual or triple-integrase inhibitors-based regimen in a French national survey
Anne-Genevieve Marcelin
,
Charlotte Charpentier
,
Pantxika Bellecave
,
Basma Abdi
,
Marie-Laure Chaix
et al.
Journal articles
hal-03388629v1
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