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Structure: Internal structure identifier : 93599

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.
Human Mutation, 2016, 37 (9), pp.847 - 864. ⟨10.1002/humu.23026⟩
Journal articles hal-01847014v1

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

Stéphanie Tomé , Elodie Dandelot , Celine Dogan , Alexis Bertrand , David Geneviève et al.
Human Mutation, 2018, 39 (7), pp.970 - 982. ⟨10.1002/humu.23531⟩
Journal articles hal-01870349v1
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Real-world effectiveness of pembrolizumab in advanced melanoma: analysis of a French national clinicobiological database

Emilie Casarotto , Sheenu Chandwani , Laurent Mortier , Olivier Dereure , Caroline Dutriaux et al.
Immunotherapy, 2021, 13 (11), pp.905-916. ⟨10.2217/imt-2021-0077⟩
Journal articles 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.
RMD Open : Rheumatic & Musculoskeletal Diseases, 2017, 3 (2), ⟨10.1136/rmdopen-2017-000448⟩
Journal articles hal-03957011v1

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.
Clinical Genetics, 2019, 97 (2), pp.357-361. ⟨10.1111/cge.13643⟩
Journal articles hal-03671163v1
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Factors associated with 12 week case-fatality in Staphylococcus aureus bacteraemia: a prospective cohort study

Pierre Braquet , François Alla , Catherine Cornu , François Goehringer , Lionel Piroth et al.
Clinical Microbiology and Infection, 2016, 22 (11), pp.948.e1-948.e7. ⟨10.1016/j.cmi.2016.07.034⟩
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.
Open Forum Infectious Diseases, 2022, 9 (10), pp.ofac465. ⟨10.1093/ofid/ofac465⟩
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.
American Journal of Transplantation, 2021, 21 (3), pp.1295-1303. ⟨10.1111/ajt.16424⟩
Journal articles hal-03371189v1

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 of Medical Genetics, 2018, 55 (3), pp.jmedgenet-2017-104919. ⟨10.1136/jmedgenet-2017-104919⟩
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 of the American Medical Association, 2022, 327 (5), pp.442-453. ⟨10.1001/jama.2021.24776⟩
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
Journal articles 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.
PLoS ONE, 2022, 17 (3), pp.e0261069. ⟨10.1371/journal.pone.0261069⟩
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.
BMC Medical Research Methodology, 2021, 21 (1), ⟨10.1186/s12874-021-01404-9⟩
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.
PLoS ONE, 2013, 8 (2), pp.e56048. ⟨10.1371/journal.pone.0056048⟩
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.
European Journal of Cancer, 2021, 154, pp.57-65. ⟨10.1016/j.ejca.2021.05.031⟩
Journal articles hal-03401780v1

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.
Clinical Pharmacokinetics, 2019, 58 (4), pp.469-482. ⟨10.1007/s40262-018-0708-8⟩
Journal articles hal-02052295v1

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.
European Heart Journal, 2021, 42 (33), pp.3146-3157. ⟨10.1093/eurheartj/ehab373⟩
Journal articles 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.
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Journal articles 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.
EBioMedicine, 2019, 46, pp.94-104. ⟨10.1016/j.ebiom.2019.07.036⟩
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

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.
Digestive and Liver Disease, 2022, 54 (6), pp.747-754. ⟨10.1016/j.dld.2022.03.001⟩
Journal articles 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.
Journal of Clinical Medicine, 2023, 12 (3), pp.852. ⟨10.3390/jcm12030852⟩
Journal articles hal-03960886v1

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

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
Annales d'Endocrinologie, 2013, 74 (5-6), pp.487-90. ⟨10.1016/j.ando.2013.04.004⟩
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

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.
United European Gastroenterology Journal, 2019, 7 (8), pp.1102-1112. ⟨10.1177/2050640619861883⟩
Journal articles hal-02549178v1

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.
Clinical Infectious Diseases, 2009, 49 (9), pp.1329-1338. ⟨10.1086/606059⟩
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.
The Journal of Pediatrics, 2020, 226, pp.179-185.e4. ⟨10.1016/j.jpeds.2020.06.052⟩
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 of Antimicrobial Chemotherapy, 2021, 76 (9), pp.2400-2406. ⟨10.1093/jac/dkab193⟩
Journal articles hal-03388629v1