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Structure: Internal structure identifier : 324222

Lack of replication of previous autism spectrum disorder GWAS hits in European populations.

Bàrbara Torrico , Andreas G Chiocchetti , Elena Bacchelli , Elisabetta Trabetti , Amaia Hervás et al.
Autism Research, 2017, 10 (2), pp.202-211. ⟨10.1002/aur.1662⟩
Journal articles pasteur-01578038v1

Virtual Ontogeny of Cortical Growth Preceding Mental Illness

Yash Patel , Jean Shin , Christoph Abé , Ingrid Agartz , Clara Alloza et al.
Biological Psychiatry, 2022, 92 (4), pp.299-313. ⟨10.1016/j.biopsych.2022.02.959⟩
Journal articles hal-03866186v1
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Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

Tulio Guadalupe , Samuel R. Mathias , Theo G. M. Vanerp , Christopher D. Whelan , Marcel P. Zwiers et al.
Brain imaging and behavior (Brain Imaging Behav), 2017, 11 (5), pp.1497-1514. ⟨10.1007/s11682-016-9629-z⟩
Journal articles hal-01382787v1
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet , Zied Riahi , Sandra Chantot-Bastaraud , Luce Smagghe , Mélanie Letexier et al.
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
Journal articles pasteur-03215026v1

A compendium answering 150 questions on COVID‐19 and SARS‐CoV‐2

Carmen Riggioni , Pasquale Comberiati , Mattia Giovannini , Ioana Agache , Mübeccel Akdis et al.
Allergy, 2020, 75 (10), pp.2503-2541. ⟨10.1111/all.14449⟩
Journal articles hal-03609089v1
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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry , Geeske M van Woerden , Thomas Besnard , Martina Proietti Onori , Xénia Latypova et al.
American Journal of Human Genetics, 2017, 101 (5), pp.768 - 788. ⟨10.1016/j.ajhg.2017.10.003⟩
Journal articles inserm-01813739v1
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression

Jing Liu , Daniela Ottaviani , Meriem Sefta , Céline Desbrousses , Elodie Chapeaublanc et al.
Nature Communications, 2021, 12 (1), pp.1-20. ⟨10.1038/s41467-021-25792-0⟩
Journal articles hal-03374490v1

Specific Susceptibility to COVID-19 in Adults with Down Syndrome

Tomer Illouz , Arya Biragyn , Milana Frenkel-Morgenstern , Orly Weissberg , Alessandro Gorohovski et al.
NeuroMolecular Medicine, 2021, ⟨10.1007/s12017-021-08651-5⟩
Journal articles hal-03433463v1
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Assessment of Peak Inspiratory Flow in Young Infants with Acute Viral Bronchiolitis: Physiological Basis for Initial Flow Setting in Patients Supported with High-Flow Nasal Cannula

Christophe Milési , Anne Requirand , Aymeric Douillard , Julien Baleine , Erika Nogué et al.
The Journal of Pediatrics, 2020, 231, pp.239-245. ⟨10.1016/j.jpeds.2020.12.020⟩
Journal articles hal-03084123v1
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Loss of seryl-tRNA synthetase ( SARS1 ) causes complex spastic paraplegia and cellular senescence

Edgard Verdura , Bruno Senger , Miquel Raspall-Chaure , Agatha Schlüter , Nathalie Launay et al.
Journal of Medical Genetics, 2022, pp.jmedgenet-2022-108529. ⟨10.1136/jmg-2022-108529⟩
Journal articles hal-03798206v1

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Olaia Subirà , Jaume Català-Mora , Jesús Díaz-Cascajosa , Noel Padrón-Pérez , M. Claveria et al.
Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩
Journal articles pasteur-03219607v1
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Evaluation of treatment response in adults with relapsing MOG-Ab-associated disease

Alvaro Cobo-Calvo , María Sepúlveda , Fabien Rollot , Thais Armangué , Anne Ruiz et al.
Journal of Neuroinflammation, 2019, 16, pp.134. ⟨10.1186/s12974-019-1525-1⟩
Journal articles hal-02180590v1

COVID‐19 pandemic: Practical considerations on the organization of an allergy clinic—An EAACI/ARIA Position Paper

Oliver Pfaar , Ludger Klimek , Marek Jutel , Cezmi Akdis , Jean Bousquet et al.
Allergy, 2021, 76 (3), pp.648-676. ⟨10.1111/all.14453⟩
Journal articles hal-03608485v1

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro , Christine Dixon , Hui Guo , Oscar Bello , Jana J Vandrovcova et al.
Nature Communications, 2019, 10 (1), ⟨10.1038/s41467-019-10910-w⟩
Journal articles hal-02577355v1
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Human imprinted retrogenes exhibit non-canonical imprint chromatin signatures and reside in non-imprinted host genes

David Monk , Philippe P. Arnaud , Jennifer Frost , Andrew Wood , Michael Cowley et al.
Nucleic Acids Research, 2011, 39 (11), pp.4577 - 4586. ⟨10.1093/nar/gkq1230⟩
Journal articles hal-01934525v1
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Enhanced Neonatal Brain Responses To Sung Streams Predict Vocabulary Outcomes By Age 18 Months

Clément François , Maria Teixidó , Sylvain Takerkart , Thaïs Agut , Laura Bosch et al.
Scientific Reports, 2017, 7 (1), ⟨10.1038/s41598-017-12798-2⟩
Journal articles hal-01793454v1

Limb girdle muscular dystrophy due to mutations in POMT2

Sofie Thurø Østergaard , Katherine Johnson , Tanya Stojkovic , Thomas Krag , Willem de Ridder et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (5), pp.506-512. ⟨10.1136/jnnp-2017-317018⟩
Journal articles hal-03864445v1
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Effect of mass dihydroartemisinin–piperaquine administration in southern Mozambique on the carriage of molecular markers of antimalarial resistance

Himanshu Gupta , Beatriz Galatas , Arlindo Chidimatembue , Silvie Huijben , Pau Cisteró et al.
PLoS ONE, 2020, 15 (10), pp.e0240174. ⟨10.1371/journal.pone.0240174⟩
Journal articles pasteur-03274274v1
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Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial

Christoph Male , Anthonie Lensing , Joseph Palumbo , Riten Kumar , Ildar Nurmeev et al.
The Lancet Haematology, 2019, 7 (1), ⟨10.1016/S2352-3026(19)30219-4⟩
Journal articles hal-02357722v1
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Véronique Bolduc , A. Reghan Reghan Foley , Herimela Solomon-Degefa , Apurva Sarathy , Sandra Donkervoort et al.
JCI Insight, 2019, 4 (6), ⟨10.1172/jci.insight.124403⟩
Journal articles hal-03285227v1
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The second European interdisciplinary Ewing sarcoma research summit – A joint effort to deconstructing the multiple layers of a complex disease

Heinrich Kovar , James Amatruda , Erika Brunet , Stefan Burdach , Florencia Cidre-Aranaz et al.
Oncotarget, 2016, 7 (8), pp.8613-24. ⟨10.18632/oncotarget.6937⟩
Journal articles inserm-01703282v1
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Therapeutic Targeting of KDM1A/LSD1 in Ewing Sarcoma with SP-2509 Engages the Endoplasmic Reticulum Stress Response

Kathleen I Pishas , Christina D Drenberg , Cenny Taslim , Emily R Theisen , Kirsten M Johnson et al.
Molecular Cancer Therapeutics, 2018, 17 (9), pp.1902-1916. ⟨10.1158/1535-7163.MCT-18-0373⟩
Journal articles inserm-02440572v1