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Structure: Internal structure identifier : 461921

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

Christina Zeitz , Christelle Michiels , Marion Neuillé , Christoph Friedburg , Christel Condroyer et al.
Human Mutation, 2019, 40 (6), pp.765-787. ⟨10.1002/humu.23735⟩
Journal articles hal-02616948v1

Effects of slab-window, alkaline volcanism, and glaciation on thermochronometer cooling histories, Patagonian Andes

Viktoria Georgieva , Kerry Gallagher , Artur Sobczyk , Edward R Sobel , T.F. Schildgen et al.
Earth and Planetary Science Letters, 2019, 511, pp.164-176. ⟨10.1016/j.epsl.2019.01.030⟩
Journal articles insu-02011565v1
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The effect of dosing strategies on the therapeutic efficacy of artesunate-amodiaquine for uncomplicated malaria: a meta-analysis of individual patient data

Martin Adjuik , Richard Allan , Anupkumar Anvikar , Elizabeth Ashley , Mamadou Fallou Ba et al.
BMC Medicine, 2015, 13 (1), pp.66. ⟨10.1186/s12916-015-0301-z⟩
Journal articles hal-02560653v1
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Cobimetinib combined with vemurafenib in advanced BRAF V600 -mutant melanoma (coBRIM): updated efficacy results from a randomised, double-blind, phase 3 trial

Paolo A. Ascierto , Grant A Mcarthur , Brigitte Dréno , Victoria A Atkinson , Gabrielle Liszkay et al.
Lancet Oncology, 2016, 17, pp.1248-1260
Journal articles inserm-01407426v1
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Fishing Isotopes: The contribution of Icthyoarchaeology and ISotopic analyses in the study of the Iberian Medieval and Modern Age fisheries (6th/17th CE)

Arturo Morales-Muñiz , Zohar Irit , Laura Llorente Rodríguez , Leïa Mion , Carlos Fernández Rodriguez et al.
SEA, FISH & SUN. Archaeological & isotopic approach of aquatic resources acquisition, ANDRE Tatiana; MION Leïa, Oct 2021, Maison Méditerranéenne des Sciences de l'Homme, Aix-en-Provence, France
Conference papers hal-03376772v1

Digital Entrepreneurship

Beatrice Zani
Journal of Chinese Overseas, 2021, 17 (2), pp.265-292. ⟨10.1163/17932548-12341445⟩
Journal articles hal-03409767v1
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Towards the sustainable discovery and development of new antibiotics

Marcus Miethke , Marco Pieroni , Tilmann Weber , Mark Brönstrup , Peter Hammann et al.
Nature Reviews Chemistry, 2021, 5 (10), pp.726-749. ⟨10.1038/s41570-021-00313-1⟩
Journal articles pasteur-03427787v1
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Timing of Neanderthal occupations in the southeastern margins of the Massif Central (France): A multi-method approach

Maïlys Richard , Edwige Pons-Branchu , Kim Genuite , Stéphane Jaillet , Renaud Joannes-Boyau et al.
Quaternary Science Reviews, 2021, 273, pp.107241. ⟨10.1016/j.quascirev.2021.107241⟩
Journal articles hal-03411392v1

Maximal Speed of Propagation in Open Quantum Systems

Sébastien Breteaux , Jérémy Faupin , Marius Lemm , Israel Michael Sigal
Preprints, Working Papers, ... hal-03752046v1

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

Hasan Tawamie , Igor Martianov , Natalie Wohlfahrt , Rebecca Buchert , Gabrielle Mengus et al.
American Journal of Human Genetics, 2017, 100 (3), pp.555-561. ⟨10.1016/j.ajhg.2017.01.032⟩
Journal articles hal-03524888v1

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Petra Frick , Chantal Sellier , Ian Mackenzie , Chieh-Yu Cheng , Julie Tahraoui-Bories et al.
Acta Neuropathologica Communications, 2018, 6 (1), ⟨10.1186/s40478-018-0579-0⟩
Journal articles hal-03339513v1
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Experimental simulation of environmental warming selects against pigmented morphs of land snails

Heinz‐r. Köhler , Yvan Capowiez , Christophe Mazzia , Helene Eckstein , Nils Kaczmarek et al.
Ecology and Evolution, 2021, 11 (3), pp.1111-1130. ⟨10.1002/ece3.7002⟩
Journal articles hal-03396011v1

High level expression of expanded full-length ataxin-3 in vitro causes cell death and formation of intranuclear inclusions in neuronal cells

B. Evert , Ullrich Wüllner , Jörg B Schulz , Michael N Weller , Peter Groscurth et al.
Human Molecular Genetics, 1999, 8 (7), pp.1169-1176. ⟨10.1093/hmg/8.7.1169⟩
Journal articles hal-03503215v1

Corticotroph tumor progression after bilateral adrenalectomy (Nelson’s syndrome): systematic review and expert consensus recommendations

Martin Reincke , Adriana Albani , Guillaume Assie , Irina Bancos , Thierry Brue et al.
European Journal of Endocrinology, 2021, 184 (3), pp.P1-P16. ⟨10.1530/EJE-20-1088⟩
Journal articles hal-03662879v1
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Alpha-synuclein research: defining strategic moves in the battle against Parkinson’s disease

Luis M A Oliveira , Thomas Gasser , Robert Edwards , Markus Zweckstetter , Ronald Melki et al.
npj Parkinson's Disease, 2021, 7, ⟨10.1038/s41531-021-00203-9⟩
Journal articles cea-03308380v1
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The value of universally available raw NMR data for transparency, reproducibility, and integrity in natural product research

James B. Mcalpine , Shao-Nong Chen , Andrei Kutateladze , John Macmillan , Giovanni Appendino et al.
Natural Product Reports, 2019, 36 (1), pp.35-107. ⟨10.1039/c7np00064b⟩
Journal articles hal-01995061v1

New insights into Early Celtic consumption practices: Organic residue analyses of local and imported pottery from Vix-Mont Lassois

Maxime Rageot , Angela Mötsch , Birgit Schorer , David Bardel , Alexandra Winkler et al.
PLoS ONE, 2019, 14 (6)
Journal articles halshs-03608880v1
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Ecological plant epigenetics: Evidence from model and non-model species, and the way forward

Christina Richards , Conchita Alonso , Claude Becker , Oliver Bossdorf , Etienne Bucher et al.
Ecology Letters, 2017, 20 (12), pp.1576-1590. ⟨10.1111/ele.12858⟩
Journal articles hal-02098587v1
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Guidelines for mouse and human DC generation

Manfred B Lutz , Shafaqat Ali , Cindy Audiger , Stella E Autenrieth , Luciana Berod et al.
European Journal of Immunology, 2022, ⟨10.1002/eji.202249816⟩
Journal articles hal-03867621v1

Site-formation processes at Elands Bay Cave, South Africa

Christopher Miller , Susan Marie Mentzer , Christoph Berthold , Peter Leach , Bertrand Ligouis et al.
Southern African Humanities, 2016, 29, pp.69--128
Journal articles hal-01743035v1

Novel advanced scoping meta-review methodology for defining a graduate level textbook in an emerging subject area.

Simon Perry , Norman Mcmillan , Raul Perez Rodriguez , Sebastian Mackowski , Evgeniya Sheremet et al.
LIBER Quarterly. The journal of the Association of European Research Libraries, 2018, 28 (1), pp.1. ⟨10.18352/lq.10222⟩
Journal articles hal-02369642v1

Mapping the electric field distribution of tightly focused cylindrical vector beams with gold nanorings

J. Fulmes , D. Gollmer , S. Jäger , C. Schäfer , A. Horrer et al.
Optics Express, 2018, 26 (12), pp.14982. ⟨10.1364/OE.26.014982⟩
Journal articles hal-02369550v1

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

Simon Loiodice , Poppy Winlow , Sarah Dremier , Etienne Hanon , David Dardou et al.
Annals of Neurology, 2016, 80 (5), pp.674-685. ⟨10.1002/ana.24781⟩
Journal articles hal-02165746v1
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Dendroscope 3: An Interactive Tool for Rooted Phylogenetic Trees and Networks

Daniel Huson , Celine Scornavacca
Systematic Biology, 2012, 61 (6), pp.1061-1067. ⟨10.1093/sysbio/sys062⟩
Journal articles hal-02154987v1
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L’étude des restes fauniques : résultats

Marie-Cécile Soulier , Sandrine Costamagno , Clémentine Lemeur , Aurore Val
P@lethnologie, 2019, L’acquisition et le traitement des matières végétales et animales par les néandertaliens : quelles modalités et quelles stratégies ?, 10, pp.328-361. ⟨10.4000/palethnologie.4145⟩
Journal articles hal-02456968v1

R-Loop Mediated trans Action of the APOLO Long Noncoding RNA

Federico Ariel , Leandro Lucero , Aurelie Christ , Maria Florencia Mammarella , Teddy Jegu et al.
Molecular Cell, 2020, 77 (5), pp.1055-1065. ⟨10.1016/j.molcel.2019.12.015⟩
Journal articles hal-02964078v1

Chaos: The World of Nonperiodic Oscillations

Otto Rössler , Christophe Letellier
Books hal-02734949v1
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

Isabelle Audo , Susanne Kohl , Bart P Leroy , Francis L Munier , Xavier Guillonneau et al.
American Journal of Human Genetics, 2009, 85, pp.720 - 729. ⟨10.1016/j.ajhg.2009.10.013⟩
Journal articles hal-03086762v1

Isoginkgetin derivative IP2 enhances the adaptive immune response against tumor antigens

Romain Darrigrand , Alison Pierson , Marine Rouillon , Dolor Renko , Mathilde Boulpicante et al.
Communications Biology, 2021, 4 (1), ⟨10.1038/s42003-021-01801-2⟩
Journal articles hal-03396797v1
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The future of metabolomics in ELIXIR

M. van Rijswijk , C. Beirnaert , C. Caron , M. Cascante , V. Dominguez et al.
F1000Research, 2017, 6 (Version 2), ⟨10.12688/f1000research.12342.2⟩
Journal articles hal-01630635v1