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A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn’s Disease
Sara Frade-Proud'Hon-Clerc
,
Thomas Smol
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Frederic Frenois
,
Olivier Sand
,
Emmanuel Vaillant
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et al.
Journal articles
hal-02561826v1
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Antioxidants other than vitamin c may be detected by glucose meters: immediate relevance for patients with disorders targeted by antioxidant therapies
Guillaume Grzych
,
Jean-David Pekar
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Marie Joncquel-Chevalier Curt
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Raphael Decoin
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Pauline Vergriete
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et al.
Journal articles
hal-03405515v1
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Quality of life and mental health of adolescents and adults with Silver-Russell syndrome
Mélissa Burgevin
,
Agnès Lacroix
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Karine Bourdet
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Régis Coutant
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Bruno Donadille
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et al.
Journal articles
hal-03629998v1
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Argan oil prevents down-regulation induced by endotoxin on liver fatty acid oxidation and gluconeogenesis and on peroxisome proliferator-activated receptor gamma coactivator-1 alpha, (PGC-1alpha), peroxisome proliferator-activated receptor gamma (PPARgamma) and estrogen related receptor alpha (ERRalpha)
Riad El Kebbaj
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Pierre Andreoletti
,
Hammam L El Hajj
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Youssef El Kharrassi
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Joseph Vamecq
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et al.
Journal articles
inserm-01534672v1
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Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1
Jamal Ghoumid
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Morgane Stichelbout
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Anne-Sophie Jourdain
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Frederic Frenois
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Sophie Lejeune-Dumoulin
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et al.
Journal articles
hal-03676412v1
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
Suzanna Frints
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Aysegul Ozanturk
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Germán Rodriguez Criado
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Ute Grasshoff
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Bas de Hoon
,
et al.
Journal articles
hal-03677837v1
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Reappearance of arteriovenous malformations after complete resection of ruptured arteriovenous malformations: true recurrence or false-negative early postoperative imaging result?
Rabih Aboukais
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Matthieu Vinchon
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Mathilde Quidet
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Philippe Bourgeois
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Xavier Leclerc
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et al.
Journal articles
hal-03357891v1
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Holt-oram syndrome: clinical and molecular description of 78 patients with tbx5 variants
Clemence Vanlerberghe
,
Anne-Sophie Jourdain
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Jamal Ghoumid
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Frederic Frenois
,
Aurelie Mezel
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et al.
Journal articles
hal-03351279v1
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DISSEQ: Double-blind Next-Generation-Sequencing technologies (exome and gene panel) in the diagnosis of a cohort of 330 patients with an intellectual disability: concordance, discrepancies, and efficiencies.
A. Bruel
,
B. Gerard
,
A. Piton
,
F. Tran Mau-Them
,
A. Sorlin
,
et al.
Journal articles
hal-03131626v1
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Galectin-3 is a non-classic RNA binding protein that stabilizes the mucin MUC4 mRNA in the cytoplasm of cancer cells
Lucie Coppin
,
Audrey Vincent
,
Frédéric Frénois
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Belinda Duchêne
,
Fatima Lahdaoui
,
et al.
Journal articles
hal-01534451v1
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Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder
Judith Halewa
,
Sylviane Marouillat
,
Manon Dixneuf
,
Rose‐anne Thépault
,
Dévina C Ung
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et al.
Journal articles
inserm-03273379v1
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Difficulties adapting to nail-patella syndrome: a qualitative study of patients'' perspectives
Laura Geerts-Crabbe
,
Pascal Antoine
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Elodie Brugalle
,
Jamal Ghoumid
,
Laurence Bellengier
,
et al.
Journal articles
hal-03351307v1
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Is copd associated with increased risk for microaspiration in intubated critically ill patients ?
Thecle Degroote
,
Emmanuelle Jaillette
,
Jean Reignier
,
Farid Zerimech
,
Christophe Girault
,
et al.
Journal articles
hal-03678143v1
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Protease-antiprotease imbalance in patients with severe COVID-19
Farid Zerimech
,
Merce Jourdain
,
Brigitte Onraed
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Marion Bouchecareilh
,
Boualem Sendid
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et al.
Journal articles
hal-03436312v1
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Protective Effect of Argan and Olive Oils against LPS-Induced Oxidative Stress and Inflammation in Mice Livers.
Soufiane El Kamouni
,
Riad El Kebbaj
,
Pierre Andreoletti
,
Abderrahim El Ktaibi
,
Issam Rharrassi
,
et al.
Journal articles
inserm-01620279v1
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Two Argan Oil Phytosterols, Schottenol and Spinasterol, Attenuate Oxidative Stress and Restore LPS-Dysregulated Peroxisomal Functions in Acox1−/− and Wild-Type BV-2 Microglial Cells
Soukaina Essadek
,
Catherine Gondcaille
,
Stéphane Savary
,
Mohammad Samadi
,
Joseph Vamecq
,
et al.
Journal articles
hal-03994321v1
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Impact de la pandémie COVID-19 sur la neurochirurgie pédiatrique en France
F. Di Rocco
,
Didier Scavarda
,
Matthieu Vinchon
,
Alexandru Szathmari
,
Laurent Riffaud
,
et al.
Journal articles
hal-03405197v1
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Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
Anne-Sophie Jourdain
,
Florence Petit
,
Marie-Françoise Odou
,
Malika Balduyck
,
Perrine Brunelle
,
et al.
Journal articles
hal-02393697v1
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