A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis
Myriam Vezain
,
Matthieu Lecuyer
,
Marina Rubio
,
Valérie Dupé
,
Leslie Ratié
et al.
Journal articles
hal-01903168v1
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The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival
Kevin Hardonnière
,
Elise Saunier
,
Anthony Lemarié
,
Morgane Fernier
,
Isabelle Gallais
et al.
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hal-01359569v1
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Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D
Jean-Claude Souberbielle
,
Claude-Laurent Benhamou
,
Bernard Cortet
,
Mickael Rousière
,
Christian Roux
et al.
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hal-01225515v1
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A Novel RAB33B Mutation in Smith-McCort Dysplasia
Nina Dupuis
,
Sophie Lebon
,
Manoj Kumar
,
Séverine Drunat
,
Luitgard Graul-Neumann
et al.
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hal-02342666v1
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Christel Depienne
,
Caroline Nava
,
Boris Keren
,
Solveig Heide
,
Agnès Rastetter
et al.
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hal-01502135v1
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Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Xavier Ayrignac
,
Clarisse Carra Dallière
,
Nicolas Menjot de Champfleur
,
Christian Denier
,
Patrick Aubourg
et al.
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hal-01138578v1
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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.
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hal-01502133v1
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In vitro assessment of mitochondrial toxicity to predict drug-induced liver injury
M. Porceddu
,
N. Buron
,
P. Rustin
,
B. Fromenty
,
A. Borgne-Sanchez
et al.
In vitro assessment of mitochondrial toxicity to predict drug-induced liver injury , 9781493976768, Humana Press Inc., pp.283-300, 2018, Methods in Pharmacology and Toxicology, 978-1-4939-7677-5; 978-1-4939-7676-8.
⟨10.1007/978-1-4939-7677-5_14⟩
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hal-01777715v1
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KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP
Mathieu Kuchenbuch
,
Giulia Barcia
,
Nicole Chemaly
,
Emilie Carme
,
Agathe Roubertie
et al.
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hal-02304375v1
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh
,
Laurence Faivre
,
Anne-Laure Mosca-Boidron
,
Valérie Malan
,
Jeanne Amiel
et al.
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istex
hal-01237099v1
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Brief summary of French guidelines for the prevention, diagnosis and treatment of hospital-acquired pneumonia in ICU
Marc Leone
,
Lila Bouadma
,
Belaïd Bouhemad
,
Olivier Brissaud
,
Stéphane Dauger
et al.
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hal-01913318v1
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