학술논문
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'학술논문'
에서 검색결과 90건 | 목록
1~20
Academic Journal
Aymeric Masson; Julien Paccaud; Martina Orefice; Estelle Colin; Outi Mäkitie; Valérie Cormier-Daire; Raissa Relator; Sourav Ghosh; Jean-Marc Strub; Christine Schaeffer-Reiss; Carlo Marcelis; David A. Koolen; Rolph Pfundt; Elke de Boer; Lisenka E.L.M. Vissers; Thatjana Gardeitchik; Lonneke A.M. Aarts; Tuula Rinne; Paulien A. Terhal; Nienke E. Verbeek; Linda C. Zuurbier; Astrid S. Plomp; Marja W. Wessels; Stella A. de Man; Arjan Bouman; Lynne M. Bird; Reem Saadeh-Haddad; Maria J. Guillen Sacoto; Richard Person; Catherine Gooch; Anna C.E. Hurst; Michelle L. Thompson; Susan M. Hiatt; Rebecca O. Littlejohn; Elizabeth R. Roeder; Mari Mori; Scott Hickey; Jesse M. Hunter; Kristy Lee; Khaled Osman; Rana Halloun; Ruxandra Bachmann-Gagescu; Anita Rauch; Dagmar Wieczorek; Konrad Platzer; Johannes Luppe; Laurence Duplomb-Jego; Fatima El It; Yannis Duffourd; Frédéric Tran Mau-Them; Celine Huber; Christopher T. Gordon; Fulya Taylan; Riikka E. Mäkitie; Alice Costantini; Helena Valta; Stephen Robertson; Gemma Poke; Michel Francoise; Andrea Ciolfi; Marco Tartaglia; Nina Ekhilevitch; Rinat Zaid; Michael A. Levy; Jennifer Kerkhof; Haley McConkey; Julian Delanne; Martin Chevarin; Valentin Vautrot; Valentin Bourgeois; Sylvie Nguyen; Nathalie Marle; Patrick Callier; Hana Safraou; Angela Morgan; David J. Amor; Michael Hildebrand; David Coman; Marion Aubert Mucca; Julien Thevenon; Fanny Laffargue; Frédéric Bilan; Céline Pebrel-Richard; Grace Yoon; Michelle M. Axford; Luis A. Pérez-Jurado; Marta Sevilla-Porras; Douglas Black; Christophe Philippe; Bekim Sadikovic; Christel Thauvin-Robinet; Laurence Olivier-Faivre; Michela Ori; Quentin Thomas; Antonio Vitobello
Journal of Clinical Investigation.
Academic Journal
Alessandra Rossi; Lot Snijders Blok; Sonja Neuser; Chiara Klöckner; Konrad Platzer; Laurence Olivier Faivre; Heike Weigand; Maria L. Dentici; Marco Tartaglia; Marcello Niceta; Paolo Alfieri; Siddharth Srivastava; David Coulter; Lacey Smith; Kristin Vinorum; Gerarda Cappuccio; Nicola Brunetti‐Pierri; Deniz Torun; Mutluay Arslan; Mathilde F. Lauridsen; Oliver Murch; Rachel Irving; Sally A. Lynch; Sarju G. Mehta; Jenny Carmichael; Evelien Zonneveld‐Huijssoon; Bert de Vries; Tjitske Kleefstra; Katrine M. Johannesen; Ian T. Westphall; Susan S. Hughes; Sarah Smithson; Julie Evans; Tracy Dudding‐Byth; Marleen Simon; Ellen van Binsbergen; Johanna C. Herkert; Gea Beunders; Henry Oppermann; Mert Bakal; Rikke S. Møller; Guido Rubboli; Allan Bayat
Clinical Genetics, 104, 2, pp. 186-197
Rossi, A, Blok,L S, Neuser, S, Klöckner, C, Platzer, K, Faivre , L O, Weigand, H, Dentici, M L , Tartaglia, M, Niceta, M, Alfieri, P, Srivastava, S, Coulter, D, Smith, L , Vinorum, K, Cappuccio, G, Brunetti-Pierri, N, Torun, D, Arslan, M, Lauridsen, M F, Murch, O, Irving, R, Lynch, S A, Mehta, S G, Carmichael, J, Zonneveld-Huijssoon, E, de Vries, B, Kleefstra, T, Johannesen, K M, Westphall, I T, Hughes, S S, Smithson, S, Evans, J, Dudding-Byth, T, Simon, M, van Binsbergen, E, Herkert, J C, Beunders, G, Oppermann, H, Bakal, M, Møller, R S, Rubboli, G & Bayat, A 2023, ' POU3F3-related disorder : Defining the phenotype and expanding the molecular spectrum ', Clinical Genetics, vol. 104, no. 2, pp. 186-197 . https://doi.org/10.1111/cge.14353
Rossi, A, Blok,
Academic Journal
Osorio, A.; Milne, R. L.; Pita, G.; Peterlongo, P.; Heikkinen, T.; Simard, J.; Chenevix-Trench, G.; Spurdle, A. B.; Beesley, J.; Chen, X.; Healey, S.; Neuhausen, S. L.; Ding, Y. C.; Couch, F. J.; Wang, X.; Lindor, N.; Manoukian, S.; Barile, M.; Viel, A.; Tizzoni, L.; Szabo, C. I.; Foretova, L.; Zikan, M.; Claes, K.; Greene, M. H.; Mai, P.; Rennert, G.; Lejbkowicz, F.; Barnett-Griness, O.; Andrulis, I. L.; Ozcelik, H.; Weerasooriya, N.; Gerdes, A. -M; Thomassen, M.; Cruger, D. G.; Caligo, M. A.; Friedman, E.; Kaufman, B.; Laitman, Y.; Cohen, S.; Kontorovich, T.; Gershoni-Baruch, R.; Dagan, E.; Jernström, H.; Askmalm, M. S.; Arver, B.; Malmer, B.; Domchek, S. M.; Nathanson, K. L.; Brunet, J.; Ramón Y Cajal, T.; Yannoukakos, D.; Hamann, U.; Hogervorst, F. B. L.; Verhoef, S.; Garcíla, E. B. G.; Wijnen, J. T.; Van Den Ouweland, A.; Easton, D. F.; Peock, S.; Cook, M.; Oliver, C. T.; Frost, D.; Luccarini, C.; Evans, D. G.; Lalloo, F.; Eeles, R.; Pichert, G.; Cook, J.; Hodgson, S.; Morrison, P. J.; Douglas, F.; Godwin, A. K.; Sinilnikova, O. M.; Barjhoux, L.; Stoppa-Lyonnet, D.; Moncoutier, V.; Giraud, S.; Cassini, C.; Olivier-Faivre, L.; Révillion, F.; Peyrat, J. -P; Muller, D.; Fricker, J. -P; Lynch, H. T.; John, E. M.; Buys, S.; Daly, M.; Hopper, J. L.; Terry, M. B.; Miron, A.; Yassin, Y.; Goldgar, D.; Singer, C. F.; Gschwantler-Kaulich, D.; Pfeiler, G.; Spiess, A. -C; Hansen, T. V. O.; Johannsson, O. T.; Kirchhoff, T.; Offit, K.; Kosarin, K.; Piedmonte, M.; Rodriguez, G. C.; Wakeley, K.; Boggess, J. F.; Basil, J.; Schwartz, P. E.; Blank, S. V.; Toland, A. E.; Montagna, M.; Casella, C.; Imyanitov, E. N.; Allavena, A.; Schmutzler, R. K.; Versmold, B.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Niederacher, D.; Deiler, H.; Fiebig, B.; Varon-Mateeva, R.; Schaefer, D.; Froster, U. G.; Caldes, T.; De La Hoya, M.; McGuffog, L.; Antoniou, A. C.; Nevanlinna, H.; Radice, P.; Benítez, J.
British Journal of Cancer. 101(12):2048-2054
Conference
Tenorio, J; Arias, P; Fernandez-Jaen, A; Lay-Son, G; Bayat, A; Olivier-Faivre, L; Gallego, N; Ramos, S; Lespinasse, J; Tran-Mau-Them, F; Santos-Simarro, F; Pinson, L; Martinez-Monseny, AF; Cord, MDO; Lapunzina, P
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Academic Journal
Kate Wolfe; Andrew McQuillin; Viola Alesi; Elise Boudry Labis; Peter Cutajar; Bruno Dallapiccola; Maria Lisa Dentici; Anne Dieux‐Coeslier; Benedicte Duban‐Bedu; Tina Duelund Hjortshøj; Himanshu Goel; Sara Loddo; Deborah Morrogh; Anne‐Laure Mosca‐Boidron; Antonio Novelli; Laurence Olivier‐Faivre; Jennifer Parker; Michael J. Parker; Christine Patch; Anna L. Pelling; Thomas Smol; Zeynep Tümer; Olivier Vanakker; Arie van Haeringen; Clémence Vanlerberghe; Andre Strydom; David Skuse; Nick Bass
Am J Med Genet B Neuropsychiatr Genet
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, ML , Dieux-Coeslier, A, Duban-Bedu, B, Duelund Hjortshøj, T, Goel, H, Loddo, S, Morrogh, D, Mosca-Boidron, A-L , Novelli, A, Olivier -Faivre , L , Parker, J, Parker, M J, Patch, C, Pelling, A L , Smol, T, Tümer, Z, Vanakker, O, van Haeringen, A, Vanlerberghe, C, Strydom, A, Skuse, D & Bass, N 2018, ' Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications ', American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, vol. 177, no. 4, pp. 397-405 . https://doi.org/10.1002/ajmg.b.32627
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Wolfe, K, McQuillin, A, Alesi, V, Boudry Labis, E, Cutajar, P, Dallapiccola, B, Dentici, M
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Academic Journal
Amos CI; Wang LE; Lee JE; Gershenwald JE; Chen WV; Fang S; Kosoy R; Zhang M; Qureshi AA; Vattathil S; Schacherer CW; Gardner JM; Wang Y; Bishop DT; Barrett JH; MacGregor S; Hayward NK; Martin NG; Duffy DL; Mann GJ; Cust A; Hopper J; Brown KM; Grimm EA; Xu Y; Han Y; Jing K; McHugh C; Laurie CC; Doheny KF; Pugh EW; Seldin MF; Han J; Wei Q; GenoMEL Investigators; Q. Mega Investigators; AMFS Investigators Mann GJ; Hopper JL; Aitken JF; Armstrong BK; Giles GG; Kefford RF; Cust AE; Jenkins MA; Schmid H; Aguilera P; Badenas C; Carrera C; Cuellar F; Gabriel D; Martinez E; Gonzalez M; Iglesias P; Malvehy J; Marti Laborda R; Mila M; Ogbah Z; Butille JA; Puig S; Alós L; Arance A; Arguís P; Campo A; Castel T; Conill C; Palou J; Rull R; Sánchez M; Vidal Sicart S; Vilalta A; Vilella R; Montgomery GW; Whiteman DC; Whiteman D; Webb P; Green A; Parsons P; Purdie D; Hayward N; Landi MT; Calista D; Landi G; Minghetti P; Arcangeli F; Bertazzi PA; BIANCHI, GIOVANNA; GHIORZO, PAOLA; PASTORINO, LORENZA; BRUNO, WILLIAM; BATTISTUZZI, LINDA; GARGIULO, SARA; NASTI, SABINA; Gliori S; ORIGONE, PAOLA; Andreotti V; Queirolo P; Mackie R; Lang J; Bishop JA; Affleck P; Harrison J; Iles MM; Randerson Moor J; Harland M; Taylor JC; Whittaker L; Kukalizch K; Leake S; Karpavicius B; Haynes S; Mack T; Chan M; Taylor Y; Davies J; King P; Gruis NA; van Nieuwpoort FA; Out C; van der Drift C; Bergman W; Kukutsch N; Bavinck JN; Bakker B; van der Stoep N; ter Huurne J; van der Rhee H; Bekkenk M; Snels D; van Praag M; Brochez L; Gerritsen R; Crijns M; Vasen H; Olsson H; Ingvar C; Jönsson G; Borg Å; Måsbäck A; Lundgren L; Baeckenhorn K; Nielsen K; Casslén AS; Helsing P; Andresen PA; Rootwelt H; Akslen LA; Molven A; Avril MF; Bressac de Paillerets B; Chaudru V; Chateigner N; Corda E; Jeannin P; Lesueur F; de Lichy M; Maubec E; Mohamdi H; Demenais F; Andry Benzaquen P; Bachollet B; Bérard F; Berthet P; Boitier F; Bonadona V; Bonafé JL; Bonnetblanc JM; Cambazard F; Caron O; Caux F; Chevrant Breton J; Chompret A; Dalle S; Demange L; Dereure O; Doré MX; Doutre MS; Dugast C; Faivre L; Grange F; Humbert P; Joly P; Kerob D; Lasset C; Leccia MT; Lenoir G; Leroux D; Levang J; Lipsker D; Mansard S; Martin L; Martin Denavit T; Mateus C; Michel JL; Morel P; Olivier Faivre L; Perrot JL; Robert C; Ronger Savle S; Sassolas B; Souteyrand P; Stoppa Lyonnet D; Thomas L; Vabres P; Wierzbicka E; Elder D; Kanetsky P; Knorr J; Ming M; Mitra N; Ruffin A; Van Belle P; Debniak T; Lubiński J; Mirecka A; Ertmański S; Novakovic S; Hocevar M; Peric B; Cerkovnik P; Höiom V; Hansson J; Holland EA; Azizi E; Galore Haskel G; Friedman E; Baron Epel O; Scope A; Pavlotsky F; Yakobson E; Cohen Manheim I; Laitman Y; Milgrom R; Shimoni I; Kozlovaa E.
Human Molecular Genetics. 20:5012-5023
Academic Journal
A. Calamel; V.G.V. Pillay; L. Olivier Faivre; C. Freguin; B. Llanas; Y. Le Meur; M.P. Audrezet; E. Cornec Le Gall
Néphrologie & Thérapeutique. 18:300
Academic Journal
V. Guigue; A. Martin; M. Mangin; F. Arbez-Gindre; E. Labenne; L. Olivier-Faivre; R. Ramanah; D. Riethmuller
Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 40:476-480
Academic Journal
Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G.
European Journal of Paediatric Neurology. 21:e52-e53
Academic Journal
Marsaud, Céline; Rossignol, Sylvie; Tounian, Patrick; Netchine, Irène; Dubern, Béatrice; Abadie, V; Alcayde, S; Alembik, Y; Amiel, J; Baujat, G; Baumann-Morel, C; Bieth, E; Bertrand, AM; Bonneau, D; Bouhours Nouet, N; Brachet, C; Brioude, F; Brossier, JP; Boute, O; Cabrol, S; Carel, JC; Chabrol, B; Chivu, O; Christin, P; Collignon, P; Cordier, MP; Cormier Daire, V; Coubes, C; Coupe, B; Coutant, R; Craen, M; Crosnier, H; De Baufort, C; David, A; Delahaye, A; Delobel, B; Delrue, MA; Dieux Coeslier, A; Dommergues, MA; Doray, B; Duban-Bedu, B; Dufresne, S; Edery, P; Esteva, B; Farges, C; Fechtner, I; Francannet, C; Gilbert Dussardier, B; Gilbert, B; Ginglinger, E; Giullano, F; Goldenberg, A; Hamiel, O; Harbison, MD; Heinrichs, C; Heron, D; Holder, M; Houang, M; Genevieve, D; Gerard, M; Gonzales, M; Jantchou, P; Jonveaux, P; Jouk, PS; Kurtz, F; Le Bouc, Y; Le Merrer, M; Linglart, A; Leheup, B; Lebrun, M; Leger, J; Leinhart, A; Loeuille, GA; Manouvrier, S; Martin-Coignard, D; Mas, JC; Mathieu, M; Mercier, S; Mignot, B; Morice-Picard, F; Morin, G; Newfield, R; Odent, S; Oliver-Petit, I; Olivier-Faivre, L; Petriczko, E; Philip, N; Pienkowski, C; Pinson, L; Pinto, G; Polak, M; Quelin, C; Port-lis, M; Reiter, JC; Rio, M; Riviere, MF; Roquelaure, B; Salem, J; Simon, D; Soskin, S; Sznajer, Y; Tauber, M; Thauvin, C; Touraine, R; Teinturier, C; Toutain, A; Van Maldergem, L; Verloes, A; Vincent Delorme, C; Vu-Hong, T-A; Weill, J
Archives of Disease in Childhood. Apr 01, 2015 100(4):353-358
Academic Journal
Pediatric Dermatology. May 01, 2016 33 Suppl 1:S24-S24
Academic Journal
Pediatric Dermatology. May 01, 2016 33 Suppl 1:S24-S24
Academic Journal
Annales de Dermatologie et de Vénéréologie. 147:A265
Academic Journal
Hascoet, S.; Dulac, Y.; Ruidavets, J.B.; Edouart, T.; Arnoult, F.; Milleron, O.; Stheneur, C.; Chevallier, B.; Zordan, C.; Odent, S.; Philip, N.; Olivier-Faivre, L.; Leheup, B.; Dubois-Girod, S.; Acar, P.; Ferrières, J.; Jondeau, G.
Archives of Cardiovascular Diseases. 107(8-9):497-498
Academic Journal
Hascoet, S., MD; Dulac, Y., MD; Ruidavets, J.B., MD; Edouart, T., MD, PhD; Arnoult, F., MD; Milleron, O., MD; Stheneur, C., MD; Chevallier, B., MD, PhD; Zordan, C., MD; Odent, S., MD, PhD; Philip, N., MD, PhD; Olivier-Faivre, L., MD, PhD; Leheup, B., MD; Dubois-Girod, S., MD; Acar, P., MD, PhD; Ferrières, J., MD, PhD; Jondeau, G., MD
Archives of Cardiovascular Diseases. 107(8-9):488-489
Academic Journal
Sénémaud J; Service de Chirurgie Vasculaire, Thoracique et de Transplantation Pulmonaire, AP-HP, CHU Bichat, 75018 Paris, France.; Gaudry M; Service de Chirurgie Vasculaire, AP-HM, CHU La Timone, 13385 Marseille, France.; Jouve E; Service d'Evaluation Médicale, AP-HM, CHU La Conception, 13005 Marseille, France.; Blanchard A; Centre de Référence Constitutif Pour le Syndrome de Marfan et Apparentés, Centre Aorte Timone, AP-HM, CHU La Timone Adultes, 13014 Marseille, France.; Milleron O; Centre National de Référence Pour le Syndrome de Marfan et Apparentés, VASCERN HTAD European Reference Centre, Service de Cardiologie, AP-HP, CHU Bichat, INSERM U 1148 LVTS, Université de Paris, 75014 Paris, France.; Dulac Y; Centre de Référence Constitutif Pour le Syndrome de Marfan et Apparentés, Hôpital des Enfants, CHU de Toulouse, 31300 Toulouse, France.; Olivier-Faivre L; Centre de Compétence Pour le Syndrome de Marfan et Apparentés, Hôpital des Enfants, CHU de Dijon, 21000 Dijon, France.; Stephan D; Centre de Compétence Pour le Syndrome de Marfan et Apparentés, CHU Nouvel Hôpital Civil, 67000 Strasbourg, France.; Odent S; Centre de Compétence Pour le Syndrome de Marfan et Apparentés, Hôpital Sud, CHU de Rennes, 35200 Rennes, France.; Lanéelle D; Centre de Compétence Pour le Syndrome de Marfan et Apparentés, CHU de la Côte de Nacre, 14033 Caen, France.; Dupuis-Girod S; Centre de Compétence Pour le Syndrome de Marfan et Apparentés, CHU Hôpital Louis Pradel, 69500 Lyon, France.; Jondeau G; Centre National de Référence Pour le Syndrome de Marfan et Apparentés, VASCERN HTAD European Reference Centre, Service de Cardiologie, AP-HP, CHU Bichat, INSERM U 1148 LVTS, Université de Paris, 75014 Paris, France.; Bal-Theoleyre L; Centre de Référence Constitutif Pour le Syndrome de Marfan et Apparentés, Centre Aorte Timone, AP-HM, CHU La Timone Adultes, 13014 Marseille, France.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE
Academic Journal
D'Angelo D.; Lebon S.; Chen Q.; Martin-Brevet S.; Snyder L. G.; Hippolyte L.; Hanson E.; Maillard A. M.; Faucett W. A.; Mace A.; Pain A.; Bernier R.; Chawner S. J. R. A.; David A.; Andrieux J.; Aylward E.; Baujat G.; Caldeira I.; Conus P.; Ferrari C.; Forzano F.; Gerard M.; Goin-Kochel R. P.; Grant E.; Hunter J. V.; Isidor B.; Jacquette A.; Jonch A. E.; Keren B.; Lacombe D.; Le Caignec C.; Martin C. L.; Mannik K.; Metspalu A.; Mignot C.; Mukherjee P.; Owen M. J.; Passeggeri M.; Rooryck-Thambo C.; Rosenfeld J. A.; Spence S. J.; Steinman K. J.; Tjernagel J.; Van Haelst M.; Shen Y.; Draganski B.; Sherr E. H.; Ledbetter D. H.; van den Bree M. B. M.; Beckmann J. S.; Spiro J. E.; Reymond A.; Jacquemont S.; Chung W. K.; Knoers N. V. A. M.; Martinet D.; Belfiore M.; Cuvellier J. -C.; deVries B.; Delrue M. -A.; Doco-Fenzy M.; Lebel R.; Leheup B.; Lewis S.; Mencarelli M. A.; Minet J. -C.; Vincent-Delorme C.; Moerman A.; Mucciolo M.; Ounap K.; Rajcan-Separovic E.; Renieri A.; Sanlaville D.; Faas B. H.; Koolen D. A.; Vulto-Van Silfhout A.; de Leeuw N.; Rosanfeld J. A.; Filges I.; Achatz E.; Roetzer K. M.; Bonneau D.; Guichet A.; Lazaro L.; Plessis G.; Kroisel P. M.; Reis A.; Jonveaux P.; Chantot-Bastaraud S.; Rauch A.; Demeer B.; Nordgren A.; Labalme A.; Ferrarini A.; Ramelli G. P.; Guilmatre A.; Joly-Helas G.; Haize S.; Layet V.; Le Gallic S.; de Freminville B.; Touraine R.; Van Binsbergen E.; Mathieu-Dramard M.; Barth M.; Blaumeiser B.; Masurel A.; Cailler P.; Olivier-Faivre L.; Malacarne M.; Coutton C.; Dieterich K.; Satre V.; Wallgren-Pettersson C.; Tensgrom C.; Kaksonen S.; Duban-Bedu B.; Holder M.; Rossi M.; Gaillard D.; Bock D.; Bednarek N.; Guillin O.; Bizzarri V.; Flori E.; Silengo M.; Kooy R. F.; Aboura A.; Beri M.; Delobel B.; Drunat S.; Jaros Z.; Kolk A.; Reigo A.; Zufferey F.; Beckmann N.; Faravelli F.; Alupay H.; Aaronson B.; Ackerman S.; Ankenman K.; Anwar A.; Atwell C.; Bowe A.; Beaudet A. L.; Benedetti M.; Berg J.; Berman J.; Berry L. N.; Bibb A. L.; Blaskey L.; Brennan J.; Brewton C. M.; Buckner R.; Bukshpun P.; Burko J.; Cali P.; Cerban B.; Chang Y.; Cheong M.; Chow V.; Chu Z.; Chudnovskaya D.; Cornew L.; Dale C.; Dell J.; Dempsey A. G.; Deschamps T.; Earl R.; Edgar J.; Elgin J.; Endre J.; Evans Y. L.; Findlay A.; Fischbach G. D.; Fisk C.; Fregeau B.; Gaetz B.; Gaetz L.; Garza S.; Gerdts J.; Glenn O.; Gobuty S. E.; Golembski R.; Greenup M.; Heiken K.; Hines K.; Hinkley L.; Jackson F. I.; Jenkins J.; Jeremy R. J.; Johnson K.; Kanne S. M.; Kessler S.; Khan S. Y.; Ku M.; Kuschner E.; Laakman A. L.; Lam P.; Lasala M. W.; Lee H.; La K.; Levy S.; Lian A.; Llorens A. V.; Loftus K.; Luks T. L.; Marco E. J.; Martin S.; Martin A. J.; Marzano G.; Masson C.; McGovern K. E.; Keehn R. M.; Miller D. T.; Miller F. K.; Moss T. J.; Murray R.; Nagarajan S. S.; Nowell K. P.; Owen J.; Paal A. M.; Packer A.; Page P. Z.; Paul B. M.; Peters A.; Peterson D.; Poduri A.; Pojman N. J.; Porche K.; Proud M. B.; Qasmieh S.; Ramocki M. B.; Reilly B.; Roberts T. P. L.; Shaw D.; Sinha T.; Smith B.; Snow A.; Swarnakar V.; Thieu T.; Triantafallou C.; Vaughan R.; Wakahiro M.; Wallace A.; Ward T.; Wenegrat J.; Wolken A.
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, 'Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30. https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA Psychiatry, 73, 1, pp. 20-30
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, vol 73, iss 1
JAMA Psychiatry
JAMA PSYCHIATRY
JAMA psychiatry
JAMA Psychiatry, 73, 1, pp. 20-30
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, vol 73, iss 1
JAMA Psychiatry
JAMA PSYCHIATRY
JAMA psychiatry
Academic Journal
Annales de Dermatologie et de Vénéréologie. 133:624-625
Academic Journal
Bonadona V; Université Lyon 1, Centre National de la Recherche Scientifique UMR5558, Villeurbanne, Centre Léon Bérard, Lyon, Cedex 08, France.; Bonaïti B; Olschwang S; Grandjouan S; Huiart L; Longy M; Guimbaud R; Buecher B; Bignon YJ; Caron O; Colas C; Noguès C; Lejeune-Dumoulin S; Olivier-Faivre L; Polycarpe-Osaer F; Nguyen TD; Desseigne F; Saurin JC; Berthet P; Leroux D; Duffour J; Manouvrier S; Frébourg T; Sobol H; Lasset C; Bonaïti-Pellié C
Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE
Academic Journal
Lhussiez V; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; Dubus E; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre des Sciences du Goût et de l'Alimentation, AgroSup Dijon, CNRS, INRAE, Université Bourgogne Franche-Comté, Dijon, France.; Cesar Q; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Acar N; Centre des Sciences du Goût et de l'Alimentation, AgroSup Dijon, CNRS, INRAE, Université Bourgogne Franche-Comté, Dijon, France.; Nandrot EF; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Simonutti M; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Lizé E; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; Nguyen S; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; Geissler A; Plateforme d'Imagerie Cellulaire DImaCell (site CellImaP), INSERM LNC UMR1231, Dijon, France.; Bouchot A; Plateforme d'Imagerie Cellulaire DImaCell (site CellImaP), INSERM LNC UMR1231, Dijon, France.; Ansar M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Picaud S; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Thauvin-Robinet C; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon Bourgogne, Dijon, France.; Olivier-Faivre L; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU Dijon Bourgogne, Dijon, France.; Duplomb L; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Da Costa R; INSERM UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon, France.; FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
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