Publications - 'B'
Publications 301 - 325 de 850
| Titre | DOI |
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome T. Besnard; N. Sloboda; A. Goldenberg; S. Kury; B. Cogne; F. Breheret; E. Trochu; S. Conrad; M. Vincent; W. Deb; X. Balguerie; S. Barbarot; G. Baujat; T. Ben-Omran; A.C. Bursztejn; V. Carmignac; A.N. Datta; A. Delignieres; L. Faivre; B. Gardie; J.L. Gueant; P. Kuentz; M. Lenglet; M.C. Nassogne; V. Ramaekers; R.E. Schnur; Y. Si; E. Torti; J. Thevenon; P. Vabres; L. Van Maldergem; D. Wand; A. Wiedemann; B. Cariou; R. Redon; A. Lamaziere; S. Bezieau; F. Feillet; B. Isidor 2019 |
10.1038/s41436-019-0445-x |
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Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy M. Kambouris; J. Thevenon; A. Soldatos; A. Cox; J. Stephen; T. Ben-Omran; Y. Al-Sarraj; H. Boulos; W. Bone; J.C. Mullikin; A. Masurel-Paulet; J. St-Onge; Y. Dufford; C. Chantegret; C. Thauvin-Robinet; J. Al-Alami; L. Faivre; J.Baptiste Riviere; W.A. Gahl; A.G. Bassuk; M.Christine Malicdan; H. El-Shanti; N.I.S.C.Comparativ Sequencing 2017 |
10.1002/acn3.372 |
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Biallelic variants in LARS2 and KARS cause deafness and ovario leukodystrophy M.S. van der Knaap; M. Bugiani; M.I. Mendes; L.G. Riley; D.E.C. Smith; J. Rudinger-Thirion; M. Frugier; M. Breur; J. Crawford; J. van Gaalen; M. Schouten; M. Willems; Q. Waisfisz; F.Tran Mau-Them; R.J. Rodenburg; R.J. Taft; B. Keren; J. Christodoulou; C. Depienne; C. Simons; G.S. Salomons; F. Mochel 2019 |
10.1212/WNL.0000000000007098 |
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Biallelic variants in TRAPPC11 cause syndromic intellectual disability A. Lunati; S. Heide; S. Vuillaumier; G. Leverger; I. Desguerre; M. Moutard; M. Spentchian; N. Hadouiri; V. Darmency; Q. Thomas; F. Lecoquierre; A. Vitobello; C. Philippe; L. Faivre; C. Thauvin-Robinet; D. Heron 2019 |
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Biallelic variants in TRAPPC11 cause syndromic intellectual disability A. Lunati; S. Heide; S. Vuillaumier; G. Leverger; I. Desguerre; M. Moutard; M. Spentchian; N. Hadouiri; V. Darmency; Q. Thomas; F. Lecoquierre; A. Vitobello; C. Philippe; L. Faivre; C. Thauvin-Robinet; D. Heron 2019 |
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Bias and humidity effects on the ammonia sensing of perylene derivative/lutetium bisphthalocyanine MSDI heterojunctions P. Gaudillat; A. Wannebroucq; J.M. Suisse; M. Bouvet 2016 |
10.1016/j.snb.2015.09.015 |
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Bias correction of dynamically downscaled precipitation to compute soil water deficit for explaining year-to-year variation of tree growth over northeastern France D. Boulard; T. Castel; P. Camberlin; A.S. Sergent; D. Asse; N. Breda; V. Badeau; A. Rossi; B. Pohl 2017 |
10.1016/j.agrformet.2016.08.021 |
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Bias in carbon concentration and delta C-13 measurements of organic matter due to cleaning treatments with organic solvents E. Muller; C. Thomazo; E.E. Stueken; C. Hallmann; A. Leider; C. Chaduteau; R. Buick; F. Baton; P. Philippot; M. Ader 2018 |
10.1016/j.chemgeo.2018.06.018 |
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Biased Nanoscale Contact as Active Element for Electrically Driven Plasmonic Nanoantenna A.V. Uskov; J.B. Khurgin; M. Buret; A. Bouhelier; I.V. Smetanin; I.E. Protsenko 2017 |
10.1021/acsphotonics.7b00272 |
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Biases in the metabarcoding of plant pathogens using rust fungi as a model system A. Makiola; I.A. Dickie; R.J. Holdaway; J.R. Wood; K.H. Orwin; C.K. Lee; T.R. Glare 2019 |
10.1002/mbo3.780 |
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Bibliometric Delineation of Scientific Fields M. Zitt; A. Lelu; M. Cadot; G. Cabanac 2019 |
10.1007/978-3-030-02511-3_2 |
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Bibliotherapy in general practice: elaboration of an expert consensus E. Escourrou; K. Mazalovic 2016 |
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BIBRACKETS IN UNITAL ALGEBRAS AND IN CATEGORIES G. Massuyeau; V. Turaev 2017 |
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Bichromatically pumped nonlinear fiber ring cavity A. Bendahmane; D. Ceoldo; J. Fatome; G. Millot; T. Hansson; D. Modotto; S. Wabnitz; B. Kibler 2017 |
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Bichromatically pumped nonlinear fiber ring cavity A. Bendahmane; D. Ceoldo; J. Fatome; G. Millot; T. Hansson; D. Modotto; S. Wabnitz; B. Kibler 2017 |
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Bidirectional private key exchange using delay-coupled semiconductor lasers X. Porte; M.C. Soriano; D. Brunner; I. Fischer 2016 |
10.1364/OL.41.002871 |
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Bidirectional Soliton Rain Dynamics Induced by Casimir-Like Interactions in a Graphene Mode-Locked Fiber Laser K. Sulimany; O. Lib; G. Masri; A. Klein; M. Fridman; P. Grelu; O. Gat; H. Steinberg 2018 |
10.1103/PhysRevLett.121.133902 |
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Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition E. Brischoux-Boucher; E. Dahlen; C. Gronier; F. Nobili; E. Marcoux; F.S. Alkuraya; L. Van Maldergem 2020 |
10.1111/cge.13821, Early Access Date = {SEP 2020 |
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Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition E. Brischoux-Boucher; E. Dahlen; C. Gronier; F. Nobili; E. Marcoux; F.S. Alkuraya; L. Van Maldergem 2020 |
10.1111/cge.13821 |
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Bifunctional Z-Scheme Ag/AgVO3/g-C3N4 photocatalysts for expired ciprofloxacin degradation and hydrogen production from natural rainwater without using scavengers M.Fakhrul Ri Samsudin; C. Frebillot; Y. Kaddoury; S. Sufian; W.J. Ong 2020 |
10.1016/j.jenvman.2020.110803 |
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Bifurcation of Symmetric Domain Walls for the Benard-Rayleigh Convection Problem M. Haragus; G. Iooss 2021 |
10.1007/s00205-020-01584-6, Early Access Date = {NOV 2020 |
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Bifurcation of Symmetric Domain Walls for the Benard-Rayleigh Convection Problem M. Haragus; G. Iooss 2021 |
10.1007/s00205-020-01584-6 |
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Bifurcation topology transfer in nonlinear nanocantilever arrays subject to parametric and internal resonances S. Souayeh; N. Kacem 2014 |
10.1051/matecconf/20141604004 |
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Bifurcations and Exact Solutions in a Model of Hydrogen-Bonded-Chains J. Li; F. Chen; A.S. Tchakoutio-Nguetcho 2015 |
10.1142/S0218127415500625 |
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BIFURCATIONS IN THE ELEMENTARY DESBOVES FAMILY F. Bianchi; J. Taflin 2017 |
10.1090/proc/13579 |