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Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis
Caroline Kannengiesser
,
Borie Raphael
,
Christelle Ménard
,
Marion Réocreux
,
Patrick Nitschké
et al.
Article dans une revue
hal-01214563v1
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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
Elodie Bal
,
Hyun-Sook Park
,
Zakia Belaid-Choucair
,
Hulya Kayserili
,
Magali Naville
et al.
Article dans une revue
hal-02415844v1
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Severity of COVID-19 and survival in patients with rheumatic and inflammatory diseases: data from the French RMD COVID-19 cohort of 694 patients
Florence Aeschlimann
,
Nassim Ait-Abdallah
,
Jean-David Albert
,
Didier Alcais
,
Yannick Allanore
et al.
Article dans une revue
hal-03105409v1
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Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies
Carine El Sissy
,
Jeremie Rosain
,
Paula Vieira-Martins
,
Pauline Bordereau
,
Aurelia Gruber
et al.
Article dans une revue
pasteur-02423490v1
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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh
,
Delphine Héron
,
Timothy J. Edwards
,
Angélique Quartier
,
Charles Galea
et al.
Article dans une revue
hal-01502133v1
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BRIP1 coding variants are associated with a high risk of hepatocellular carcinoma occurrence in patients with HCV- or HBV-related liver disease
Abderrahim Oussalah
,
Patrice Hodonou Avogbe
,
Erwan Guyot
,
Céline Chery
,
Rosa-Maria Guéant
et al.
Article dans une revue
hal-01494359v1
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Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study
Arsène Mekinian
,
Eric Grignano
,
Thorsten Braun
,
Olivier Decaux
,
Eric Liozon
et al.
Article dans une revue
hal-01299293v1
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Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia
Margaux Gadion
,
Agathe Hervé
,
Julia Herrou
,
Anya Rothenbuhler
,
Violaine Smail-Faugeron
et al.
Article dans une revue
hal-03820272v1
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B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells.
Matthieu Mahévas
,
Pauline Patin
,
François Huetz
,
Marc Descatoire
,
Nicolas Cagnard
et al.
Article dans une revue
pasteur-00778075v1
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Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.
Ai Ing Li
,
Yan Li
,
Silvia Lopez-Lastra
,
Ralph Stadhouders
,
Franziska Paul
et al.
Article dans une revue
pasteur-01501939v1
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Factors associated with post-seasonal serological titer and risk factors for infection with the pandemic A/H1N1 virus in the French general population.
Nathanael Lapidus
,
Xavier de Lamballerie
,
Nicolas Salez
,
Michel Setbon
,
Rosemary M Delabre
et al.
Article dans une revue
hal-01122215v1
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Cryptosporidium spp. Infection in Solid Organ Transplantation
Fanny Lanternier
,
Karima Amazzough
,
Loïc Favennec
,
Marie-France Mamzer-Bruneel
,
Hendy Abdoul
et al.
Article dans une revue
hal-01698267v1
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Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
Mathieu P Rodero
,
Isabelle Melki
,
Yoann Rose
,
Carolina Uggenti
,
Lien van Eyck
et al.
Article dans une revue
hal-02996541v1
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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1 H NMR spectroscopy and genetic testing
Nadia Bouchemal
,
Lisa Ouss
,
Anaïs Brassier
,
Valérie Barbier
,
Stéphanie Gobin
et al.
Article dans une revue
hal-02409445v1
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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency
Laure Delhon
,
Clementine Mahaut
,
Nicolas Goudin
,
Emilie Gaudas
,
Kevin Piquand
et al.
Article dans une revue
hal-02137091v1
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Musculoskeletal Symptoms in Patients With Cryopyrin-Associated Periodic Syndromes: A Large Database Study
Laetitia Houx
,
Eric Hachulla
,
Isabelle Kone-Paut
,
Pierre Quartier
,
Isabelle Touitou
et al.
Article dans une revue
hal-01261619v1
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“Real life” use of raltegravir during pregnancy in France: The Coferal-IMEA048 cohort study
Pierre Gantner
,
Babacar Sylla
,
Laurence Morand-Joubert
,
Pierre Frange
,
Karine Lacombe
et al.
Article dans une revue
hal-02120969v1
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Antifungal de-escalation was not associated with adverse outcome in critically ill patients treated for invasive candidiasis: post hoc analyses of the AmarCAND2 study data
Sébastien Bailly
,
Olivier Leroy
,
Philippe Montravers
,
Jean-Michel Constantin
,
Hervé Dupont
et al.
Article dans une revue
hal-01205360v1
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Enhanced Renewal of Erythroid Progenitors in Myelodysplastic Anemia by Peripheral Serotonin
David Sibon
,
Tereza Coman
,
Julien Rossignol
,
Mathilde Lamarque
,
Olivier Kosmider
et al.
Article dans une revue
hal-02086600v1
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Early blood transcriptomic signature predicts patients’ outcome after out-of-hospital cardiac arrest
Renaud Tissier
,
Hakim Hocini
,
Nicolas Tchitchek
,
Nicolas Deye
,
Stéphane Legriel
et al.
Article dans une revue
hal-03485659v1
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Gastrointestinal manifestations in mastocytosis: A study of 83 patients.
Harry Sokol
,
Sophie Georgin-Lavialle
,
Danielle Canioni
,
Stéphane Barete
,
Gandhi Damaj
et al.
Article dans une revue
hal-00849794v1
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Association Between FIASMAs and Reduced Risk of Intubation or Death in Individuals Hospitalized for Severe COVID‐19: An Observational Multicenter Study
Nicolas Hoertel
,
Marina Sánchez-Rico
,
Erich Gulbins
,
Johannes Kornhuber
,
Alexander Carpinteiro
et al.
Article dans une revue
hal-03967465v1
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Seizures in dominantly inherited Alzheimer disease
Aline Zarea
,
Camille Charbonnier
,
Anne Rovelet-Lecrux
,
Gaël Nicolas
,
Stéphane Rousseau
et al.
Article dans une revue
inserm-01371485v1
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study.
Amélie Trinquand
,
Aline Tanguy-Schmidt
,
Raouf Ben Abdelali
,
Jérôme Lambert
,
Kheira Beldjord
et al.
Article dans une revue
hal-00979452v1
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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects
Annie Laquérriere
,
Jérome Maluenda
,
Adrien Camus
,
Laura Fontenas
,
Klaus Dieterich
et al.
Article dans une revue
hal-01064295v1
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Antifungal therapy for patients with proven or suspected Candida peritonitis: Amarcand2, a prospective cohort study in French intensive care units
P. Montravers
,
P.F. Perrigault
,
J.F. Timsit
,
J.P. Mira
,
O. Lortholary
et al.
Article dans une revue
hal-01808143v1
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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
E. Ranza
,
C. Huber
,
N. Levin
,
G. Baujat
,
C. Bole-Feysot
et al.
Article dans une revue
hal-01541071v1
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Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gaël Nicolas
,
David Wallon
,
Camille Charbonnier
,
Olivier Quenez
,
Stéphane Rousseau
et al.
Article dans une revue
hal-01431285v1
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Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network
Aurélie Caye
,
Marion Strullu
,
Fabien Guidez
,
Bruno Cassinat
,
Steven Gazal
et al.
Article dans une revue
hal-01938513v1
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Plasma apolipoprotein H limits HCV replication and associates with response to NS3 protease inhibitors-based therapy
Philippe Sultanik
,
Vincent Mallet
,
Sylvie Lagaye
,
Armanda Casrouge
,
Céline Dorival
et al.
Article dans une revue
istex
pasteur-01380846v1
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