Publications
Publications 7801 - 7825 de 33557
| Titre | DOI |
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David Bowie's urban landscapes and nightscapes: A reading of the Bowiean text J.Du Verger 2018 |
10.4000/miranda.13401 |
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Day and Night Place Recognition Based on Low-quality Night-time Images L. Liu; C. Cappelle; Y. Ruichek 2020 |
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Day/night variations of feeding and immune activities in larvae of the European grapevine moth, Lobesia botrana C. Iltis; J. Moreau; G. Gamb; C. Maniere; C. Boidin-Wichlacz; A. Tasiemski; D. Thiery; P. Louapre 2021 |
10.1127/entomologia/2021/1208 |
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Daytime napping is associated with retinal microcirculation: a large population-based study in China X. Liu; G. Wang; X. Wang; Y. Wang; Y. Min; J. Zhang; R.T. Chang; X. Zhao; W. He; D.M. Moshfeghi; Y. Lu; A.W. Hsing; K. Yao; S. Zhu 2022 |
10.1093/sleep/zsab277 |
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DC Microgrid Topologies and Stability Analysis for Electrified Transportation Systems S. Pang; B. Nahid-Mobarakeh; S. Pierfederici; Y. Huangfu; G. Luo; F. Gao 2018 |
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DDX3X mutations in 11 french patients with intellectual disability : new phenotypic features V. Ruault; C. Coubes; P. Charles; M. Vincent; M. Nizon; C. Mignot; A. Delahaye-Duriez; C. Thauvin; N. Jean-Marcais; A. Garde; L. Faivre; Y. Alembik; A. Gouronc; B. Durand; C. Nava; B. Keren; C. Depienne; T.Mau Them; M. Willems; B. Gerard; D. Genevieve 2019 |
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DDX3X mutations in 11 french patients with intellectual disability : new phenotypic features V. Ruault; C. Coubes; P. Charles; M. Vincent; M. Nizon; C. Mignot; A. Delahaye-Duriez; C. Thauvin; N. Jean-Marcais; A. Garde; L. Faivre; Y. Alembik; A. Gouronc; B. Durand; C. Nava; B. Keren; C. Depienne; T.Mau Them; M. Willems; B. Gerard; D. Genevieve 2019 |
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De asse et partibus eius. The ace and its fractions. Books I III. Critical edition of the text of 1541 and French translation by Luigi-Alberto Sanchi M. Barral-Baron 2020 |
10.33137/rr.v43i2.34844 |
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism I.J. Diets; R. van der Donk; K. Baltrunaite; E. Waanders; M.R.F. Reijnders; A.J.M. Dingemans; R. Pfundt; A.T.Vulto van Silfhout; L. Wiel; C. Gilissen; J. Thevenon; L. Perrin; A. Afenjar; C. Nava; B. Keren; S. Bartz; B. Peri; G. Beunders; N. Verbeek; K. van Gassen; I. Thiffault; M. Cadieux-Dion; L. Huerta-Saenz; M. Wagner; V. Konstantopoulou; J. Vodopiutz; M. Griese; A. Boel; B. Callewaert; H.G. Brunner; T. Kleefstra; N. Hoogerbrugge; B.B.A. de Vries; V. Hwa; A. Dauber; J.Y. Hehir-Kwa; R.P. Kuiper; M.C.J. Jongmans 2019 |
10.1016/j.ajhg.2019.02.023 |
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome F. Vetrini; S. McKee; J.A. Rosenfeld; M. Suri; A.M. Lewis; K.Margaret Nugent; E. Roeder; R.O. Littlejohn; S. Holder; W. Zhu; J.T. Alaimo; B. Graham; J.M. Harris; J.B. Gibson; M. Pastore; K.L. McBride; M. Komara; L. Al-Gazali; A.Al Shamsi; E.A. Fanning; K.J. Wierenga; D.A. Scott; Z. Ben-Neriah; V. Meiner; H. Cassuto; O. Elpeleg; ; L.C. Burrage; L.H. Seaver; L. Van Maldergem; S. Mahida; J.S. Soul; M. Marlatt; L. Matyakhina; J. Vogt; J.A. Gold; S.M. Park; V. Varghese; A.K. Lampe; A. Kumar; M. Lees; M. Holder-Espinasse; V. McConnell; B. Bernhard; E. Blair; V. Harrison; D.M. Muzny; R.A. Gibbs; S.H. Elsea; J.E. Posey; W. Bi; S. Lalani; F. Xia; Y. Yang; C.M. Eng; J.R. Lupski; P. Liu; D.D.D. Study 2019 |
10.1186/s13073-019-0623-0 |
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome (vol 11, 12, 2019) F. Vetrini; S. McKee; J.A. Rosenfeld; M. Suri; A.M. Lewis; K.Margaret Nugent; E. Roeder; R.O. Littlejohn; S. Holder; W. Zhu; J.T. Alaimo; B. Graham; J.M. Harris; J.B. Gibson; M. Pastore; K.L. McBride; M. Komara; L. Al-Gazali; A.Al Shamsi; E.A. Fanning; K.J. Wierenga; D.A. Scott; Z. Ben-Neriah; V. Meiner; H. Cassuto; O. Elpeleg; ; L.C. Burrage; L.H. Seaver; L. Van Maldergem; S. Mahida; J.S. Soul; M. Marlatt; L. Matyakhina; J. Vogt; J.A. Gold; S.M. Park; V. Varghese; A.K. Lampe; A. Kumar; M. Lees; M. Holder-Espinasse; V. McConnell; B. Bernhard; E. Blair; V. Harrison; D.M. Muzny; R.A. Gibbs; S.H. Elsea; J.E. Posey; W. Bi; S. Lalani; F. Xia; Y. Yang; C.M. Eng; J.R. Lupski; P. Liu; D.D.D. Study 2019 |
10.1186/s13073-019-0630-1 |
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyriapolydactyly-hydrocephalus syndrome G.M. Mirzaa; D.A. Parry; A.E. Fry; K.A. Giamanco; J. Schwartzentruber; M. Vanstone; C.V. Logan; N. Roberts; C.A. Johnson; S. Singh; S.S. Kholmanskikh; C. Adams; R.D. Hodge; R.F. Hevner; D.T. Bonthron; K.P.J. Braun; L. Faivre; J.B. Riviere; J. St-Onge; K.W. Gripp; G.M.S. Mancini; K. Pang; E. Sweeney; H. Van Esch; N. Verbeek; D. Wieczorek; M. Steinraths; J. Majewski; K.M. Boycott; D.T. Pilz; E. Ross; W.B. Dobyns; E.G. Sheridan; F.O.R.G.E.Canada Consortium 2014 |
10.1038/ng.2948 |
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder F. Mattioli; G. Hayot; N. Drouot; B. Isidor; J. Courraud; M.V. Hinckelmann; F.Tran Mau-Them; C. Sellier; A. Goldman; A. Telegrafi; A. Boughton; C. Gamble; S. Moutton; A. Quartier; N. Jean; P. Van Ness; S. Grotto; S. Nambot; G. Douglas; Y.Cindy Si; J. Chelly; Z. Shad; E. Kaplan; R. Dineen; C. Golzio; N. Charlet-Berguerand; J.L. Mandel; A. Piton 2020 |
10.1016/j.ajhg.2020.02.013 |
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De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder F. Mattioli; G. Hayot; N. Drouot; B. Isidor; J. Courraud; M. Hinckelmann; T. Mau-Them; C. Sellier; A. Goldman; A. Telegrafi; A. Boughton; C. Gamble; S. Moutton; A. Quartier; N. Jean; P. Van Ness; S. Grotto; S. Nambot; G. Douglas; Y. Si; J. Chelly; Z. Shad; E. Kaplan; R. Dineen; C. Golzio; N. Charlet; J. Mandel; A. Piton 2020 |
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia H.A. Haijes; M.J.E. Koster; H. Rehmann; D. Li; H. Hakonarson; G. Cappuccio; M. Hancarova; D. Lehalle; W. Reardon; B. Schaefer; A. Lehman; I.M.B.H. van de Laar; C.D. Tesselaar; C. Turner; A. Goldenberg; S. Patrier; J. Thevenon; M. Pinelli; N. Brunetti-Pierri; D. Prchalova; M. Havlovicova; M. Vlckova; Z. Sedlacek; E. Lopez; V. Ragoussis; A.T. Pagnamenta; U. Kini; H.R. Vos; R.M. van Es; R.F.M.A. van Schaik; T.A.J. van Essen; M. Kibaek; J.C. Taylor; J. Sullivan; V. Shashi; S. Petrovski; C. Fagerberg; D.M. Martin; ; R. Pfundt; M.J. Falk; E.M. McCormick; H.T.Marc Timmers; P.M. van Hasselt 2019 |
10.1016/j.ajhg.2019.06.016 |
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes L. Liang; X. Li; S. Moutton; S.A.Schrier Vergano; B. Cogne; deAnne Saint-Martin; A.C.E. Hurst; Y. Hu; O. Bodamer; J. Thevenon; C.Y. Hung; B. Isidor; B. Gerard; A. Rega; S. Nambot; D. Lehalle; Y. Duffourd; C. Thauvin-Robinet; L. Faivre; S. Bezieau; L.S. Dure; D.C. Helbling; D. Bick; C. Xu; Q. Chen; G.M.S. Mancini; A. Vitobello; Q.Kenneth Wang 2019 |
10.1093/hmg/ddz117 |
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De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features D. Lehalle; P. Vabres; T. Bierhals; M.T. Cho; B. Cogne; M. Avila; V. Carmignac; L. Duplomb-Jego; E. De Bont; Y. Duffourd; F. Duijkers; O. Elpeleg; A. Fattal-Valevski; D. Genevieve; A. Guimier; D. Harris; M. Hempel; B. Isidor; T. Jouan; P. Kuentz; K. Lichtenbelt; L. Ramey; L. Pasquier; J. St-Onge; A. Sorlin; J. Thevenon; E. Torti; K. Van Gassen; M. Van Haelst; S. van Koningsbruggen; J. Riviere; C. Thauvin; J. Betschinger; L. Faivre 2019 |
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De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features D. Lehalle; P. Vabres; T. Bierhals; M.T. Cho; B. Cogne; M. Avila; V. Carmignac; L. Duplomb-Jego; E. De Bont; Y. Duffourd; F. Duijkers; O. Elpeleg; A. Fattal-Valevski; D. Genevieve; A. Guimier; D. Harris; M. Hempel; B. Isidor; T. Jouan; P. Kuentz; K. Lichtenbelt; L. Ramey; L. Pasquier; J. St-Onge; A. Sorlin; J. Thevenon; E. Torti; K. Van Gassen; M. Van Haelst; S. van Koningsbruggen; J. Riviere; C. Thauvin; J. Betschinger; L. Faivre 2019 |
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De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene J. Chemin; K. Siquier-Pernet; M. Nicouleau; G. Barcia; A. Ahmad; D. Medina-Cano; S. Hanein; N. Altin; L. Hubert; C. Bole-Feysot; C. Fourage; P. Nitschke; J. Thevenon; M. Rio; P. Blanc; C. Vidal; N. Bahi-Buisson; I. Desguerre; A. Munnich; S. Lyonnet; N. Boddaert; E. Fassi; M. Shinawi; H. Zimmerman; J. Amiel; L. Faivre; L. Colleaux; P. Lory; V. Cantagrel 2018 |
10.1093/brain/awy145 |
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation F. Basilicata; A.L. Bruel; G. Semplicio; C.Isabelle K. Valsecchi; T. Aktas; Y. Duffourd; T. Rumpf; J. Morton; I. Bache; W.G. Szymanski; C. Gilissen; O. Vanakker; K. Ounap; G. Mittler; I. van der Burgt; S.El Chehadeh; M.T. Cho; R. Pfundt; T.Yang Tan; M. Kirchhoff; B. Menten; S. Vergult; K. Lindstrom; A. Reis; D.S. Johnson; A. Fryer; V. McKay; R.B. Fisher; C. Thauvin-Robinet; D. Francis; T. Roscioli; S. Pajusalu; K. Radtke; J. Ganesh; H.G. Brunner; M. Wilson; L. Faivre; V.M. Kalscheuer; J. Thevenon; A. Akhtar; D.D.D. Study 2018 |
10.1038/s41588-018-0220-y |
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De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S. Kury; G.M. van Woerden; T. Besnard; X. Latypova; M.T. Cho; S. Sanders; H.A.F. Stessman; E.A. Sellars; J. Berg; J.L. Waugh; L.A. Robak; J.A. Bernstein; M. Deardorff; G.E. Hoganson; D.S. Johnson; T. Dabir; A. Sarkar; G. Lesca; P.A. Terhal; T.E. Prescott; D.K. Grange; A. van Haeringen; C. Lam; G. Mirzaa; K.L. Helbig; A. Afenjar; C. Nava; A. Vitobello; L. Faivre; B. Cogne; J.A. Rosenfeld; P.B. Agrawal; S. Odent; S. Bezieau; Y. Elgersma; S. Mercier; C.A.M.K.2A.B. Consortium 2019 |
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De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S. Kury; G.M. van Woerden; T. Besnard; X. Latypova; M.T. Cho; S. Sanders; H.A.F. Stessman; E.A. Sellars; J. Berg; J.L. Waugh; L.A. Robak; J.A. Bernstein; M. Deardorff; G.E. Hoganson; D.S. Johnson; T. Dabir; A. Sarkar; G. Lesca; P.A. Terhal; T.E. Prescott; D.K. Grange; A. van Haeringen; C. Lam; G. Mirzaa; K.L. Helbig; A. Afenjar; C. Nava; A. Vitobello; L. Faivre; B. Cogne; J.A. Rosenfeld; P.B. Agrawal; S. Odent; S. Bezieau; Y. Elgersma; S. Mercier; C.A.M.K.2A.B. Consortium 2019 |
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De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise K. Writzl; A. Maver; L. Kovacic; P. Martinez-Valero; L. Contreras; J. Satrustegui; M. Castori; L. Faivre; P. Lapunzina; A.B.P. van Kuilenburg; S. Radovic; C. Thauvin-Robinet; B. Peterlin; A. del Arco; R.C. Hennekam 2017 |
10.1016/j.ajhg.2017.09.017 |
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De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome) K. Writzl; A. Maver; L. Kovacic; P. Martinez-Valero; L. Contreras; J. Satrustegui; M. Castori; L. Faivre; P. Lapunzina; A.B.P. van Kuilenburg; S. Radovic; C. Thauvin; B. Peterlin; A. del Arco; R.C. Hennekam 2019 |
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De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome) K. Writzl; A. Maver; L. Kovacic; P. Martinez-Valero; L. Contreras; J. Satrustegui; M. Castori; L. Faivre; P. Lapunzina; A.B.P. van Kuilenburg; S. Radovic; C. Thauvin; B. Peterlin; A. del Arco; R.C. Hennekam 2019 |