Publications
Publications 11676 - 11700 de 33557
| Titre | DOI |
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Expanding the clinical spectrum of mosaic BRAF skin phenotypes A. Sorlin; V. Carmignac; J. Amiel; O. Boccara; S. Fraitag; A. Maruani; M. Theiler; L. Weibel; Y. Duffourd; C. Philippe; C. Thauvin-Robinet; L. Faivre; J.B. Riviere; P. Vabres; P. Kuentz 2021 |
10.1111/jdv.17413 |
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Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype A.L. Bruel; S. Bigoni; J. Kennedy; M. Whiteford; C. Buxton; G. Parmeggiani; M. Wherlock; G. Woodward; M. Greenslade; M. Williams; J. St-Onge; A. Ferlini; G. Garani; E. Ballardini; B.W. van Bon; R. Acuna-Hidalgo; A. Bohring; J.F. Deleuze; A. Boland; V. Meyer; R. Olaso; E. Ginglinger; J.B. Riviere; H.G. Brunner; A. Hoischen; R. Newbury-Ecob; L. Faivre; C. Thauvin-Robinet; J. Thevenon; D.D.D. Study 2017 |
10.1136/jmedgenet-2017-104748 |
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Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency C. Saunier; S.Isungset Stove; B. Popp; B. Gerard; M. Blenski; N. AhMew; C. de Bie; P. Goldenberg; B. Isidor; B. Keren; B. Leheup; L. Lampert; C. Mignot; K. Tezcan; G.M.S. Mancini; C. Nava; M. Wasserstein; A.L. Bruel; J. Thevenon; A. Masurel; Y. Duffourd; P. Kuentz; F. Huet; J.B. Riviere; M. van Slegtenhorst; L. Faivre; A. Piton; A. Reis; T. Arnesen; C. Thauvin-Robinet; C. Zweier 2016 |
10.1002/humu.23001 |
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Expanding the phenotype of CTNNB1-mutated individuals and description of the fetal phenotype C.F. Wells; S. Heide; P. Charles; I. Marey; D. Heron; C. Nava; T. Courtin; B. Isidor; A. Piton; B. Gerard; J. Buratti; M. Fradin; C. Dubourg; L. Pasquier; L. Faivre; N. Philip; M. Milh; G. Lesca; P. Edery; D. Sanlaville; A. Liquier; A. Dieux; T. Attie-Bitach; E. Colin; D. Bonneau; B. Keren; D. Genevieve 2019 |
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Expanding the phenotype of CTNNB1-mutated individuals and description of the fetal phenotype C.F. Wells; S. Heide; P. Charles; I. Marey; D. Heron; C. Nava; T. Courtin; B. Isidor; A. Piton; B. Gerard; J. Buratti; M. Fradin; C. Dubourg; L. Pasquier; L. Faivre; N. Philip; M. Milh; G. Lesca; P. Edery; D. Sanlaville; A. Liquier; A. Dieux; T. Attie-Bitach; E. Colin; D. Bonneau; B. Keren; D. Genevieve 2019 |
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Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature J. Taylor; M. Spiller; K. Ranguin; A. Vitobello; C. Philippe; A.L. Bruel; G. Cappuccio; N. Brunetti-Pierri; M. Willems; B. Isidor; K. Park; M. Balasubramanian Submitted |
10.1002/ajmg.a.62677 |
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Expanding the phenotypic spectrum of TRIT1 mutatins, a cause of severe autosomal recessive microcephaly T. Smol; P. Brunelle; O. Boute-Benejean; J.A. Basseti; M. Figeac; L. Faivre; F. Petit; C. Thauvin-Robinet; Q. Thomas; F. Tran-Mau-Them; S. Manouvrier-Hanu; J. Ghoumid 2019 |
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay K. Machol; J. Rousseau; S. Ehresmann; T. Garcia; T.Tuyet Mai Nguyen; R.C. Spillmann; J.A. Sullivan; V. Shashi; Yhui Jiang; N. Stong; E. Fiala; M. Willing; R. Pfundt; T. Kleefstra; M.T. Cho; H. McLaughlin; M.Rosello Piera; C. Orellana; F. Martinez; A. Caro-Llopis; S. Monfort; T. Roscioli; C.Yee Nixon; M.F. Buckley; A. Turner; W.D. Jones; P.M. van Hasseit; F.C. Hofstede; ; A.S. Brooks; M.A. van Slegtenhorst; K. Lachlan; J. Sebastian; S. Madan-Khetarpal; D. Sonal; N. Sakkubai; J. Thevenon; L. Faivre; A. Maurel; S. Petrovski; I.D. Krantz; J.M. Tarpinian; J.A. Rosenfeld; B.H. Lee; P.M. Campeau; D.R. Adams; M.E. Alejandro; P. Allard; M.S. Azamian; C.A. Bacino; A. Balasubramanyam; H. Barseghyan; G.F. Batzli; A.H. Beggs; B. Behnam; A. Bican; D.P. Bick; C.L. Birch; D. Bonner; B.E. Boone; B.L. Bostwick; L.C. Briere; D.M. Brown; M. Brush; E.A. Burke; L.C. Burrage; S. Chen; G.D. Clark; T.R. Coakley; J.D. Cogan; C.M. Cooper; H. Cope; W.J. Craigen; P. D'Souza; M. Davids; J.G. Dayal; E.C. Dell'Angelica; S.U. Dhar; A. Dillon; K.M. Dipple; L.A. Donnell-Fink; N. Dorrani; D.C. Dorset; E.D. Douine; D.D. Draper; D.J. Eckstein; L.T. Emrick; C.M. Eng; A. Eskin; C. Esteves; T. Estwick; C. Ferreira; B.L. Fogel; N.D. Friedman; W.A. Gahl; E. Glanton; R.A. Godfrey; D.B. Goldstein; S.E. Gould; J.P.F. Gourdine; C.A. Groden; A.L. Gropman; M. Haendel; R. Hamid; N.A. Hanchard; L.H. Handley; M.R. Herzog; I.A. Holm; J. Hom; E.M. Howerton; Y. Huang; H.J. Jacob; M. Jain; J.M. Johnston; A.L. Jones; I.S. Kohane; D.M. Krasnewich; E.L. Krieg; J.B. Krier; S.R. Lalani; Lalani; C. Lau; J. Lazar; H. Lee; S.E. Levy; R.A. Lewis; S.A. Lincoln; A. Lipson; S.K. Loo; J. Loscalzo; R.L. Maas; E.F. Macnamara; C.A. MacRae; V.V. Maduro; M.M. Majcherska; ; L.A. Mamounas; T.A. Manolio; T.C. Markello; R. Marom; J.A. Martinez-Agosto; S. Marwaha; T. May; A. McConkie-Rosell; C.E. McCormack; A.T. McCray; M. Might; P.M. Moretti; M. Morimoto; J.J. Mulvihill; J.L. Murphy; D.M. Muzny; M.E. Nehrebecky; S.F. Nelson; S. Newberry; J.H. Newman; S.K. Nicholas; D. Novacic; J.S. Orange; C. Pallais; C.G.S. Palmer; J.C. Papp; N.H. Parker; L.D.M. Pena; ; J.E. Posey; J.H. Postlethwait; L. Potocki; B.N. Pusey; C.M. Reuter; A.K. Robertson; L.H. Rodan; J.B. Sampson; S.L. Samson; K. Schoch; M.C. Schroeder; D.A. Scott; P. Sharma; R. Signer; E.K. Silverman; J.S. Sinsheimer; K.S. Smith; K. Splinter; J.M. Stoler; D.A. Sweetser; C.J. Tifft; C. Toro; A.A. Tran; T.K. Urv; Z.M. Valivullah; E. Vilain; T.P. Vogel; C.E. Wahl; N.M. Walley; C.A. Walsh; P.A. Ward; K.M. Waters; M. Westerfield; A.L. Wise; L.A. Wolfe; E.A. Worthey; S. Yamamoto; Y. Yang; G. Yu; D.B. Zastrow; A. Zheng; U.Dis Network 2019 |
10.1016/j.ajhg.2018.11.007 |
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Expanding the spectrum of WDR62 mutations : description of new cases L. Ruaud; S. Drunat; A. Ernault; Y. Capri; L. Van Maldergem; C. Engel; C. Altuzarra; A. Bayat; S. Moortgart; I. Maystadt; M. Abramowicz; C. Zweier; I. Lorenz; D. Haye; F. Giuliano; S. Vaessen; L. Servais; E. Di Maria; F. Faravelli; J. Kohlhase; T. Bast; N. Miladi; A. Agadr; S. Auvin; A. Verloes; S. Passemard 2020 |
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Expanding the spectrum of WDR62 mutations : description of new cases L. Ruaud; S. Drunat; A. Ernault; Y. Capri; L. Van Maldergem; C. Engel; C. Altuzarra; A. Bayat; S. Moortgart; I. Maystadt; M. Abramowicz; C. Zweier; I. Lorenz; D. Haye; F. Giuliano; S. Vaessen; L. Servais; E. Di Maria; F. Faravelli; J. Kohlhase; T. Bast; N. Miladi; A. Agadr; S. Auvin; A. Verloes; S. Passemard 2020 |
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Expanding up to far-infrared filamentation-induced supercontinuum spanning in chalcogenide glasses O. Mouawad; P. Bejot; P. Mathey; P. Froidevaux; A. Lemiere; F. Billard; B. Kibler; F. Desevedavy; G. Gadret; J.C. Jules; O. Faucher; F. Smektala 2018 |
10.1007/s00340-018-7041-7 |
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Expansion of Mnemiopsis leidyi in the French Mediterranean lagoons along the Gulf of Lion G. Marchessaux; B. Belloni 2021 |
10.1016/j.seares.2021.101995 |
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Expansion of the phenotype of Kosaki overgrowth syndrome, and description of the long-term outcome in the oldest case B. Chalot; A. Foster; E. Schaeffer; C. Rustad; K. Tveten; T. Cole; C. Thauvin-Robinet; J. Woodley; A. Bruel; R. Keelagher; C. Philippe; T. Antoniadi; P. Vabres; D. Lim; L. Faivre 2019 |
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Expansion of the phenotype of Kosaki overgrowth syndrome, and description of the long-term outcome in the oldest case B. Chalot; A. Foster; E. Schaeffer; C. Rustad; K. Tveten; T. Cole; C. Thauvin-Robinet; J. Woodley; A. Bruel; R. Keelagher; C. Philippe; T. Antoniadi; P. Vabres; D. Lim; L. Faivre 2019 |
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Expansions of the solutions of the biconfluent Heun equation in terms of incomplete Beta and Gamma functions T.A. Ishkhanyan; Y. Pashayan-Leroy; M.R. Gevorgyan; C. Leroy; A.M. Ishkhanyan 2016 |
10.3103/S106833721603004X |
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Expansions of the solutions of the confluent Heun equation in terms of the incomplete Beta and the Appell generalized hypergeometric functions C. Leroy; A.M. Ishkhanyan 2015 |
10.1080/10652469.2015.1019490 |
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Expatiating the impact of anthropogenic aspects and climatic factors on long-term soil monitoring and management S. Bungau; T. Behl; L. Aleya; P. Bourgeade; B. Aloui-Sosse; A.Lavinia Purza; A. Abid; A.Dora Samuel 2021 |
10.1007/s11356-021-14127-7 |
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Expectation about maintenance therapy among the GINECO French ovarian cancer cohort from the European NOGGO/ENGOT-ov22 Expression IV survey M. Lorcet; A. Lortholary; J.Emmanuel Kurtz; D. Berton-Rigaud; M. Fabbro; T.De la Mott Rouge; M.Christine Kaminsky-Forrett; A. Floquet; G. Freyer; P. Combe; N. Dohollou; E. Kalbacher; R. Despax; R. Largillier; A.Claire Har Bessard; N. Gane; J. Sehouli; G. Oskay-Oezcelik; I. Licaj; I. Ray-Coquard; F.Joly Lobbedez 2018 |
10.1016/j.bulcan.2018.01.015 |
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Expectation or Sensorial Reality? An Empirical Investigation of the Biodynamic Calendar for Wine Drinkers W.V. Parr; D. Valentin; P. Reedman; C. Grose; J.A. Green 2017 |
10.1371/journal.pone.0169257 |
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Expectations and fears of patients with diabetes and macular edema treated by intravitreal injections F. Fajnkuchen; M.N. Delyfer; J. Conrath; S. Baillif; S. Mrejen; M. Srour; J.P. Bellamy; B. Dupas; A. Lecleire-Collet; C. Meillon; P. Bonicel; M. Hobeika; A. Giocanti-Auregan 2020 |
10.1007/s00592-020-01513-9 |
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Expectations of socially deprived patients towards health care professionals K. Mazalovic; M. Villedary; J.N. Beis; R. Faure; C. Charra; C. Zabawa 2017 |
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Expectations of socially deprived patients towards health care professionals K. Mazalovic; M. Villedary; J.N. Beis; R. Faure; C. Charra; C. Zabawa 2017 |
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Experience Based Approach for Li-ion Batteries RUL Prediction R. Khelif; B. Chebel-Morello; N. Zerhouni 2015 |
10.1016/j.ifacol.2015.06.174 |
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Experience discrepancy in leadership succession: Does it matter? Evidence from the Elite European Soccer Clubs (1994-2015) F. Lassalle; P.X. Meschi; E. Metais 2018 |
10.1002/jsc.2212 |
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Experience of Inverse Modeling for Estimating Hydraulic Parameters of Unsaturated Soils H. Qanza; A. Maslouhi; S. Abboudi 2016 |
10.3103/S1068373916110066 |