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Epilepsy of infancy with migrating focal seizures (EIMFS) due to KCNT1 mutations shows an identifiable temporal sequence and a poor outcome with pharmacoresistant epilepsy and high mortality with SUDEP
M. Kuchenbuch
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Giulia Barcia
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Nicole Chemaly
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A. Kamińska-Pranke
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Pascal Benquet
et al.
European Journal of Neurology, 2020, 27, pp.288-288
Journal articles
hal-02879958v1
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Mortality in HCV-cured versus HCV-uninfected people with HIV: a matched analysis in the ANRS CO4 FHDH cohort
Maria-Bernarda Requena
,
Sophie Grabar
,
Emilie Lanoy
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Gilles Pialoux
,
Eric Billaud
et al.
Journal articles
hal-04074291v1
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje van der Sluijs
,
Marieke Joosten
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Caroline Alby
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Tania Attié-Bitach
,
Kelly Gilmore
et al.
Journal articles
hal-04102377v1
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New insights into CC2D2A -related Joubert syndrome
Madeleine Harion
,
Leila Qebibo
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Audrey Riquet
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Christelle Rougeot
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Alexandra Afenjar
et al.
Journal articles
hal-03837222v1
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Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy
Claire Bar
,
Delphine Breuillard
,
Mathieu Kuchenbuch
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Mélanie Jennesson
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Gwenaël Le Guyader
et al.
Journal articles
hal-03485808v1
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Investigation of primary immune deficiency after severe bacterial infection in children: A population-based study in western France
C. Flatres
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J. M. Roue
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C. Picard
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L. Carausu
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C. Thomas
et al.
Journal articles
hal-03285136v1
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Growth charts in Kabuki syndrome 1
Valentin Ruault
,
Carole Corsini
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Claire Duflos
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Sandrine Akouete
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Véra Georgescu
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Journal articles
hal-03388687v1
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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri
,
Audrey Putoux
,
Audric Cologne
,
Sophie Kaltenbach
,
Alicia Besson
et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (9), pp.e2102569120. ⟨10.1073/pnas.2102569120⟩
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hal-04021151v1
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Impact of Childhood Onset Psoriasis on Addictive Behaviours, Socioeconomic and Educational Data in Adulthood
Emmanuel Mahe
,
Florence Tubach
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Denis Jullien
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Diep Tran
,
Carle Paul
et al.
Journal articles
hal-03714477v1
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Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study
C Binquet
,
Catherine Lejeune
,
Laurence Faivre
,
Marion Bouctot
,
Marie-Laure Asensio
et al.
Journal articles
hal-03610031v1
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Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome
Valérie Seror
,
Olivier L’haridon
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Laurence Bussières
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Valérie Malan
,
Nicolas Fries
et al.
Journal articles
hal-02262523v1
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Paul Bastard
,
Lindsey B. Rosen
,
Qian Zhang
,
Eleftherios Michailidis
,
Hans-Heinrich Hoffmann
et al.
Journal articles
pasteur-02958871v1
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Myosin-1b interacts with UNC45A and controls intestinal epithelial morphogenesis
Céline Revenu
,
Marianna Parlato
,
Marion Rosello
,
Karine Duroure
,
Rémi Duclaux-Loras
et al.
2021
Preprints, Working Papers, ...
hal-03426634v1
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Sébastien Küry
,
Jinwei Zhang
,
Thomas Besnard
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Alfonso Caro-Llopis
,
Xue Zeng
et al.
Journal articles
hal-03790515v1
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UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus
Iman Dalloul
,
Brice Laffleur
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Zeinab Dalloul
,
Batoul Wehbi
,
Florence Jouan
et al.
Journal articles
hal-03475084v1
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In silico model reveals the key role of GABA in KCNT1-epilepsy in infancy with migrating focal seizures
Mathieu Kuchenbuch
,
Rima Nabbout
,
Maxime Yochum
,
Paul Sauleau
,
Julien Modolo
et al.
Journal articles
hal-03156565v1
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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol
Catherine Lejeune
,
Charley Robert-Viard
,
Nicolas Meunier-Beillard
,
Myriam Alice Borel
,
Léna Gourvès
et al.
Journal articles
hal-03678712v1
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Prognostic value and oncogenic landscape of TP53 alterations in adult and pediatric T-ALL
Mathieu Simonin
,
Guillaume Andrieu
,
Rudy Birsen
,
Marie Balsat
,
Guillaume Hypolite
et al.
Journal articles
hal-03980602v1
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Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting
Pascal Chappert
,
François Huetz
,
Marie-Alix Espinasse
,
Fabrice Chatonnet
,
Louise Pannetier
et al.
Journal articles
hal-03800976v1
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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants : A multicenter retrospective case series
Marion Lesieur-Sebellin
,
Marianne Till
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Philippe Khau van Kien
,
Bérénice Herve
,
Nicolas Bourgon
et al.
Journal articles
hal-03481652v1
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Benjamin Cogné
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Sophie Ehresmann
,
Eliane Beauregard-Lacroix
,
Justine Rousseau
,
Thomas Besnard
et al.
Journal articles
hal-02181523v1
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Clinical diversity and treatment results in Tegumentary Leishmaniasis: A European clinical report in 459 patients
Romain Guery
,
Stephen Walker
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Gundel Harms
,
Andreas Neumayr
,
Pieter van Thiel
et al.
Journal articles
hal-03439210v1
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Impact of the first wave of the COVID-19 pandemic on the treatment of psoriasis with systemic therapies in France: Results from the PSOBIOTEQ cohort
H Arlegui
,
E Mahé
,
M.A. Richard
,
Y de Rycke
,
M Viguier
et al.
Journal articles
hal-04062046v1
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Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses
François Danion
,
Vishukumar Aimanianda
,
Jagadeesh Bayry
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Amélie Duréault
,
Sarah Sze Wah Wong
et al.
Journal articles
pasteur-02501359v1
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First-Line Biologic Therapy and Obesity in Moderate-to-Severe Psoriasis: Results from the Prospective Multicenter Cohort Psobioteq
Florence Assan
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Florence Tubach
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Hugo Arlegui
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Manuelle Viguier
,
Marie Beylot-Barry
et al.
Journal articles
hal-03156232v1
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Radiotherapy or Autologous Stem-Cell Transplantation for Primary CNS Lymphoma in Patients Age 60 Years and Younger: Long-Term Results of the Randomized Phase II PRECIS Study
Caroline Houillier
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S Dureau
,
Luc Taillandier
,
Roch Houot
,
O. Chinot
et al.
Journal articles
hal-03758013v1
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Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient
Luisa Marsili
,
Eline Overwater
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Nadine Hanna
,
Geneviève Baujat
,
Marieke J H Baars
et al.
Journal articles
hal-02440935v1
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A Molecular Classifier Increased the Accuracy of Lymphoma Diagnosis By Expert Pathologists in the Diffuse Large B-Cell Lymphoma Gained Trial from the Lysa
Amine Moslemi
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Victor Bobée
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Paul Blanc-Durand
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Fanny Drieux
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Fabienne Desmots-Loyer
et al.
Journal articles
hal-03770121v1
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Striking differences in weight gain after cART initiation depending on early or advanced presentation: Results from the ANRS CO4 FHDH cohort
Sophie Grabar
,
Valérie Potard
,
Lionel Piroth
,
Sophie Abgrall
,
Louis Bernard
et al.
Journal articles
hal-03968711v1
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Large-scale screening of lipase acid deficiency in at risk population
Abdellah Tebani
,
Bénédicte Sudrié-Arnaud
,
Hela Boudabous
,
Anais Brassier
,
Rodolphe Anty
et al.
Journal articles
hal-03223991v1
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