Publications
Publications 1301 - 1325 de 33557
| Titre | DOI |
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A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism and cerebellar dysgenesis N. Jean-Marcais; H.E. Olson; E. Yang; D. Heron; K. Tatton-Brown; P.A. van der Zwaag; E.K. Bijlsma; B.L. Krock; E. Backer; E. Kamsteeg; M. Sinnema; M.R.F. Reijnders; D. Bearden; R.J. Lunsing; L. Burglen; G. Lesca; L.A. Smith; B. Sheidley; P.L. Pearl; M.El Achkar; A. Poduri; C.M. Skraban; A.I. Nesbitt; D.E.Fransen van de Putte; C.A.L. Ruivenkamp; P. Rump; I. Sabatier; D.A. Sweetser; J.L. Waxler; J. Tarpinian; K.J. Wierenga; J. Donadieu; V. Narayanan; K.M. Ramsey; C. Nava; S.H. Lelieveld; J. Schuurs-Hoeijmakers; H.G. Brunner; B. Keren; T. Mau-Them; J. Thevenon; L. Faivre; G. Thomas; C. Thauvin-Robinet 2019 |
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis H.E. Olson; N. Jean-Marcais; E. Yang; D. Heron; K. Tatton-Brown; P.A. van der Zwaag; E.K. Bijlsma; B.L. Krock; E. Backer; E.J. Kamsteeg; M. Sinnema; M.R.F. Reijnders; D. Bearden; A. Begtrup; A. Telegrafi; R.J. Lunsing; L. Burglen; G. Lesca; M.T. Cho; L.A. Smith; B.R. Sheidley; C.Moufawad E. Achkar; P.L. Pearl; A. Poduri; C.M. Skraban; J. Tarpinian; A.I. Nesbitt; D.E.Fransen van de Putte; C.A.L. Ruivenkamp; P. Rump; N. Chatron; I. Sabatier; J. de Bellescize; L. Guibaud; D.A. Sweetser; J.L. Waxler; K.J. Wierenga; J. Donadieu; V. Narayanan; K.M. Ramsey; C. Nava; J.B. Riviere; A. Vitobello; F.Tran Mau-Them; C. Philippe; A.L. Bruel; Y. Duffourd; L. Thomas; S.H. Lelieveld; J. Schuurs-Hoeijmakers; H.G. Brunner; B. Keren; J. Thevenon; L. Faivre; G. Thomas; C. Thauvin-Robinet; D.D.D. Study; C.4R.C.D.Res Grp 2018 |
10.1016/j.ajhg.2018.03.005 |
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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels A. Abidi; J.J. Devaux; F. Molinari; G. Alcaraz; F.X. Michon; J. Sutera-Sardo; H. Becq; C. Lacoste; C. Altuzarra; A. Afenjar; C. Mignot; D. Doummar; B. Isidor; S.N. Guyen; E. Colin; S. De La Vaissiere; D. Haye; A. Trauffler; C. Badens; F. Prieur; G. Lesca; L. Villard; M. Milh; L. Aniksztejn 2015 |
10.1016/j.nbd.2015.04.017 |
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A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas S. Rosenberg; I. Simeonova; F. Bielle; M. Verreault; B. Bance; I. Le Roux; M. Daniau; A. Nadaradjane; V. Gleize; S. Paris; Y. Marie; M. Giry; M. Polivka; D. Figarella-Branger; M.H. Aubriot-Lorton; C. Villa; A. Vasiljevic; E. Lechapt-Zalcman; M. Kalamarides; A. Sharif; K. Mokhtari; S.Maria Pagnotta; A. Lavarone; A. Lasorella; E. Huillard; M. Sanson 2018 |
10.1038/s41467-018-04622-w |
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A reference genome for pea provides insight into legume genome evolution J. Kreplak; M.A. Madoui; P. Capal; P. Novak; K. Labadie; G. Aubert; P.E. Bayer; K.K. Gali; R.A. Syme; D. Main; A. Klein; A. Berard; I. Vrbova; C. Fournier; L. d'Agata; C. Belser; W. Berrabah; H. Toegelova; Z. Milec; J. Vrana; H.T. Lee; A. Kougbeadjo; M. Terezol; C. Huneau; C.J. Turo; N. Mohellibi; P. Neumann; M. Falque; K. Gallardo; R. McGee; B. Tar'an; A. Bendahmane; J.M. Aury; J. Batley; M.C. Le Paslier; N. Ellis; T.D. Warkentin; C.J. Coyne; J. Salse; D. Edwards; J. Lichtenzveig; J. Macas; J. Dolezel; P. Wincker; J. Burstin 2019 |
10.1038/s41588-019-0480-1 |
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A Refined Theory for Bending Vibratory Analysis of Thick Functionally Graded Beams Y. Boutahar; N. Lebaal; D. Bassir 2021 |
10.3390/math9121422 |
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A Reflection on the Measurement of the Burnout Syndrome R. Bianchi 2015 |
10.1111/acem.12611 |
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A relative robust optimization for a vehicle routing problem with time-window and synchronized visits considering greenhouse gas emissions Y. Shi; Y. Zhou; W. Ye; Q.Qian Zhao 2020 |
10.1016/j.jclepro.2020.124112 |
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A Remark on BMW Algebra, q-Schur Algebras and Categorification P. Vaz; E. Wagner 2014 |
10.4153/CJM-2013-018-1 |
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A remark on hyperplane sections of rational normal scrolls A. Conca; D. Faenzi 2017 |
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A remark on hyperplane sections of rational normal scrolls A. Conca; D. Faenzi 2017 |
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A REMARK ON THE ATTAINABLE SET OF THE SCHRODINGER EQUATION J. Lampart 2021 |
10.3934/eect.2020075 |
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A renal pseudotumor T. Maldiney; V. Leguy-Seguin; O. Prevel; A. Rajillah; T. Thibault; M. Chabannes; B. Nicolas; A. Guilhem; S. Berthier; S. Audia; M. Samson; B. Bonnotte 2019 |
10.1016/j.revmed.2018.12.006 |
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A renewable energy-aware power allocation for cloud data centers: A game theory approach M.Anis Benblidia; B. Brik; M. Esseghir; L. Merghem-Boulahia 2021 |
10.1016/j.comcom.2021.08.001 |
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A Replicated Network Approach to `Big Data' in Ecology A. Ma; D.A. Bohan; E. Canard; S.A.P. Derocles; C. Gray; X. Lu; S. Macfadyen; G.Q. Romero; P. Kratina 2018 |
10.1016/bs.aecr.2018.04.001 |
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A requirement-driven architecture definition approach for conceptual design of mechatronic systems C. Zheng; B. Eynard; X. Qin; J. Li; J. Bai; S. Gomes; Y. Zhang 2019 |
10.3233/ICA-180595 |
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A resistant diarrhoea R. Bardet; J.P. Moreno; T. Rodriguez; A.L. Tremeau; E. Hernandez; A.L. Bolot 2016 |
10.1016/j.lpm.2016.01.007 |
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A retrospective analysis of the impact of treatments and blood counts on survival and the risk of vascular events during the course of polycythaemia vera A. Enblom-Larsson; F. Girodon; M. Bak; D. Hersby; V. Jooste; H. Hasselbalch; P. Johansson; B. Andreasson 2017 |
10.1111/bjh.14625 |
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A Retrospective Multicentric Study of Ewing Sarcoma Family of Tumors in Patients Older Than 50: Management and Outcome P. Rochefort; A. Italiano; V. Laurence; N. Penel; A. Lardy-Cleaud; O. Mir; C. Chevreau; F. Bertucci; E. Bompas; L. Chaigneau; D. Levy; T. Ryckewaert; S. Dumont; P. Meeus; D. Ranchere; J.Y. Blay; P.Alexandre Cassier 2017 |
10.1038/s41598-017-17733-z |
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A RETROSPECTIVE STUDY OF THE MANAGEMENT OF ANAEMIA IN PATIENTS WITH DIALYSIS-DEPENDENT CHRONIC KIDNEY DISEASE IN FRANCE: THE AMACK STUDY G. Choukroun; C. Courivaud; G. Rostoker; P. Zaoui; V. Menoyo; S. Harmand; L. Dubel; M.M. Lorenzo 2022 |
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A retrospective study of the prescribing and outcomes of tyrosine kinase inhibitors in chronic myeloid leukaemia over a period of more than 10years A.S. Lang; M. Mounier; M. Roques; M.L. Chretien; M. Boulin 2015 |
10.1111/jcpt.12273 |
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A RETROSPECTIVE VALIDATION OF INTERNATIONAL CONSORTIUM FOR MDS/MPN RESPONSE CRITERIA IN CMML TREATED WITH HYPOMETHYLATING AGENTS M. Duchmann; T. Braun; J.B. Micol; U. Platzbecker; S. Park; S. Pilorge; O. Beyne-Rauzy; N. Vey; M. Sebert; B. Gruson; P.Y. Dumas; R. Guieze; M.L. Chretien; K. Laribi; Y. Chait; L. Legros; P. Hirsch; E. Solary; P. Fenaux; R. Itzykson 2017 |
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A Review of Biosensors for Non-Invasive Diabetes Monitoring and Screening in Human Exhaled Breath F. Usman; J.O. Dennis; A.Y. Ahmed; F. Meriaudeau; O.B. Ayodele; A.A.S. Rabih 2019 |
10.1109/ACCESS.2018.2887066 |
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A Review of DC Microgrid Energy Management Systems Dedicated to Residential Applications S. Ali; Z. Zheng; M. Aillerie; J.P. Sawicki; M.C. Pera; D. Hissel 2021 |
10.3390/en14144308 |
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A review of DC/DC converter-based electrochemical impedance spectroscopy for fuel cell electric vehicles H. Wang; A. Gaillard; D. Hissel 2019 |
10.1016/j.renene.2019.03.130 |