학술논문
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'학술논문'
에서 검색결과 73건 | 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, L S, Neuser, S, Klöckner, C, Platzer, K,
Academic Journal
Mania-Pâris, Loraine; Thomas, Quentin; Vitobello, Antonio; Mau-Them, Frédéric Tran; Duffourd, Yannis; Graber, Mathilde; Hervieu-Begue, Marie; Osseby, Guy Victor; Mohr, Sophie; Labarre, Christelle Blanc; Nambot, Sophie; Bruel, Ange-Line; Denomme-Pichon, Anne-Sophie; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Bejot, Yannick
Journal of the Neurological Sciences. 455
Academic Journal
Sénémaud, Jean; Gaudry, Marine; Jouve, Elisabeth; Blanchard, Arnaud; Milleron, Olivier; Dulac, Yves; Olivier-Faivre, Laurence; Stephan, Dominique; Odent, Sylvie; Lanéelle, Damien; Dupuis-Girod, Sophie; Jondeau, Guillaume; Bal-Theoleyre, Laurence
Journal of Clinical Medicine. April, 2023, Vol. 12 Issue 8
Academic Journal
Jean Senemaud; Marine Gaudry; Arnaud Blanchard; Olivier Milleron; Yves Dulac; Laurence Olivier-Faivre; Dominique Stephan; Sylvie Odent; Damien Lanéelle; Sophie Dupuis-Girod; Guillaume Jondeau; Laurence Bal
AORTA.
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, M L, 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 L, Dieux-Coeslier, A, Duban-Bedu, B, Duelund Hjortshøj, T, Goel, H, Loddo, S, Morrogh, D, Mosca-Boidron, A-L, Novelli, A,
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Academic Journal
Heide, Solveig ; Keren, Boris ; Billette de Villemeur, Thierry ; Chantot-Bastaraud, Sandra ; Depienne, Christel ; Nava, Caroline ; Mignot, Cyril ; Jacquette, Aurélia ; Fonteneau, Eric ; Lejeune, Elodie ; Mach, Corinne ; Marey, Isabelle ; Whalen, Sandra ; Lacombe, Didier ; Naudion, Sophie ; Rooryck, Caroline ; Toutain, Annick ; Caignec, Cédric Le ; Haye, Damien ; Olivier-Faivre, Laurence ; Masurel-Paulet, Alice ; Thauvin-Robinet, Christel ; Lesne, Fabien ; Faudet, Anne ; Ville, Dorothée ; des Portes, Vincent ; Sanlaville, Damien ; Siffroi, Jean-Pierre ; Moutard, Marie-Laure ; Héron, Delphine
In The Journal of Pediatrics June 2017 185:160-166
Academic Journal
Sorlin, Arthur; Maruani, Annabel; Aubriot-Lorton, Marie Hélene; Kuentz, Paul; Duffourd, Yannis; Teysseire, S; Carmignac, Virginie; Saint-Onge, Judith; Chevarin, M.; Jouan, Thibaud; Thauvin-Robinet, Christel; Thevenon, Julien; Olivier-Faivre, Laurence; Riviere, Jean-Baptiste; Vabres, Pierre
Journal of Investigative Dermatology. 137:1575-1578
Academic Journal
Mignot, Cyril; Lambert, Laetitia; Pasquier, Laurent; Bienvenu, Thierry; Delahaye-Duriez, Andrée; Keren, Boris; Lefranc, Jérémie; Saunier, Aline; Allou, Lila; Roth, Virginie; Valduga, Mylène; Moustaïne, Aissa; Auvin, Stéphane; Barrey, Catherine; Chantot-Bastaraud, Sandra; Lebrun, Nicolas; Moutard, Marie-Laure; Nougues, Marie-Christine; Vermersch, Anne-Isabelle; Héron, Bénédicte; Pipiras, Eva; Héron, Delphine; Olivier-Faivre, Laurence; Guéant, Jean-Louis; Jonveaux, Philippe; Philippe, Christophe
Journal of Medical Genetics. 52:61-70
Academic Journal
Claire Redin; Bénédicte Gérard; Julia Lauer; Yvan Herenger; Jean Muller; Angélique Quartier; Alice Masurel-Paulet; Marjolaine Willems; Gaétan Lesca; Salima El-Chehadeh; Stéphanie Le Gras; Serge Vicaire; Muriel Philipps; Michaël Dumas; Véronique Geoffroy; Claire Feger; Nicolas Haumesser; Yves Alembik; Magalie Barth; Dominique Bonneau; Estelle Colin; Hélène Dollfus; Bérénice Doray; Marie-Ange Delrue; Valérie Drouin-Garraud; Elisabeth Flori; Mélanie Fradin; Christine Francannet; Alice Goldenberg; Serge Lumbroso; Michèle Mathieu-Dramard; Dominique Martin-Coignard; Didier Lacombe; Gilles Morin; Anne Polge; Sylvie Sukno; Christel Thauvin-Robinet; Julien Thevenon; Martine Doco-Fenzy; David Genevieve; Pierre Sarda; Patrick Edery; Bertrand Isidor; Bernard Jost; Laurence Olivier-Faivre; Jean-Louis Mandel; Amélie Piton
J Med Genet
Academic Journal
F, Lesueur; M, de Lichy; M, Barrois; G, Durand; J, Bombled; M-F, Avril; A, Chompret; F, Boitier; G M, Lenoir; B, Bressac-de Paillerets; Monique, Baccard; Bertrand, Bachollet; Pascaline, Berthet; Valérie, Bonadona; Jean-Marie, Bonnetblanc; Olivier, Caron; Jacqueline, Chevrant-Breton; Jean-François, Cuny; Stéphane, Dalle; Michèle, Delaunay; Liliane, Demange; Julie, De Quatrebarbes; Jean-François, Doré; Marc, Frénay; Jean-Pierre, Fricker; Marion, Gauthier-Villars; Paul, Gesta; Sophie, Giraud; Philippe, Gorry; Florent, Grange; Andrew, Green; Laetitia, Huiart; Nicolas, Janin; Pascal, Joly; Delphine, Kérob; Christine, Lasset; Dominique, Leroux; Jean-Marc, Limacher; Michel, Longy; Sandrine, Mansard; Karine, Marrou; Tanguy, Martin-Denavit; Christine, Mateus; Eve, Maubec; Laurence, Olivier-Faivre; Vincent, Orlandini; Pascal, Pujol; Bruno, Sassolas; Dominique, Stoppa-Lyonnet; Luc, Thomas; Pierre, Vabres; Laurence, Venat; Ewa, Wierzbicka; Hélène, Zattara
Br J Cancer
Academic Journal
Bougeard, Gaëlle; Olivier-Faivre, Laurence; Baert-Desurmont, Stéphanie; Tinat, Julie; Martin, Cosette; Bouvignies, Emilie; Vasseur, Stéphanie; Huet, Frédéric; Couillault, Gérard; Vabres, Pierre; Le Pessot, Florence; Chapusot, Caroline; Malka, David; Bressac-de Paillerets, Brigitte; Tosi, Mario; Frebourg, Thierry
Familial Cancer. 13:131-135
Academic Journal
Jean Donadieu; Blandine Beaupain; Hélène Lapillonne; Odile Fenneteau; Flore Sicre de Fontbrune; Yves Bertrand; Nathalie Aladjidi; Vincent Barlogis; Wadih Abou Chahla; Thierry Lamy; Aline Moignet Autrel; Claire Fieschi; Thierry Leblanc; Despina Moshous; Jean Soulier; Sarah cohen Beaussant; Francois Delhommeau; Helene Cavé; Catherine Paillard; Elodie Gouache; Fares bou Mitri; Damien Bonnet; Laurence Olivier Faivre; Philippe Labrune; Marlène Pasquet; Virginie Gandemer; Nizar Mahlaoui; Karl Balabanian; Francoise Bachelerie; Christine Bellanne-Chantelot
Blood. 136:40-41
Academic Journal
Chatron, Nicolas; Lesca, Gaetan; Till, Marianne; Hurst, Anna C.; Boogaerts, Anneleen; Journel, Hubert; Tabet, Anne Claude; Thevenon, Julien; Isidor, Bertrand; Vincent, Marie; Amiel, Jeanne; Rio, Marlène; Moutton, Sébastien; Naudion, Sophie; Lasseaux, Eulalie; Morin, Gilles; Olivier-Faivre, Laurence; Sanlaville, Damien; Malan, Valerie; Genevieve, David
European Journal of Paediatric Neurology. 21:e63-e64
Academic Journal
Bourgon, Nicolas; Kuentz, Paul; Carmignac, Virginie; Sorlin, Arthur; Duffourd, Yannis; Chevarin, Martin; Jouan, Thibaud; Thauvin, Christel; Vabres, Pierre; Olivier-Faivre, Laurence
European Journal of Obstetrics & Gynecology and Reproductive Biology. 234:e169-e169
Academic Journal
Lhussiez, Vincent; Dubus, Elisabeth; Cesar, Quénol; Acar, Niyazi; Nandrot, Emeline; Simonutti, Manuel; Audo, Isabelle; Lizé, Eléonore; Nguyen, Sylvie; Geissler, Audrey; Bouchot, André; Ansar, Muhammad; Picaud, Serge; Thauvin-Robinet, Christel; Olivier-Faivre, Laurence; Duplomb, Laurence; da Costa, Romain
Invest Ophthalmol Vis Sci
Academic Journal
Mignot, Cyril; Lambert, Laetitia; Pasquier, Laurent; Bienvenu, Thierry; Delahaye-Duriez, Andrée; Keren, Boris; Lefranc, Jérémie; Saunier, Aline; Allou, Lila; Roth, Virginie; Valduga, Mylène; Moustaïne, Aissa; Auvin, Stéphane; Barrey, Catherine; Chantot-Bastaraud, Sandra; Lebrun, Nicolas; Moutard, Marie-Laure; Nougues, Marie-Christine; Vermersch, Anne-Isabelle; Héron, Bénédicte; Pipiras, Eva; Héron, Delphine; Olivier-Faivre, Laurence; Guéant, Jean-Louis; Jonveaux, Philippe; Philippe, Christophe
Journal of Medical Genetics. Jan 01, 2015 52(1):61-70
Academic Journal
Redin, Claire; Gérard, Bénédicte; Lauer, Julia; Herenger, Yvan; Muller, Jean; Quartier, Angélique; Masurel-Paulet, Alice; Willems, Marjolaine; Lesca, Gaétan; El-Chehadeh, Salima; Le Gras, Stéphanie; Vicaire, Serge; Philipps, Muriel; Dumas, Michaël; Geoffroy, Véronique; Feger, Claire; Haumesser, Nicolas; Alembik, Yves; Barth, Magalie; Bonneau, Dominique; Colin, Estelle; Dollfus, Hélène; Doray, Bérénice; Delrue, Marie-Ange; Drouin-Garraud, Valérie; Flori, Elisabeth; Fradin, Mélanie; Francannet, Christine; Goldenberg, Alice; Lumbroso, Serge; Mathieu-Dramard, Michèle; Martin-Coignard, Dominique; Lacombe, Didier; Morin, Gilles; Polge, Anne; Sukno, Sylvie; Thauvin-Robinet, Christel; Thevenon, Julien; Doco-Fenzy, Martine; Genevieve, David; Sarda, Pierre; Edery, Patrick; Isidor, Bertrand; Jost, Bernard; Olivier-Faivre, Laurence; Mandel, Jean-Louis; Piton, Amélie
Journal of Medical Genetics. Nov 01, 2014 51(11):724-736
Academic Journal
JAMA Dermatology. Jan 01, 2014 150(1):42-46
Academic Journal
Bonadona, Valérie; Bonaïti, Bernard; Olschwang, Sylviane; Grandjouan, Sophie; Huiart, Laetitia; Longy, Michel; Guimbaud, Rosine; Buecher, Bruno; Bignon, Yves-Jean; Caron, Olivier; Colas, Chrystelle; Noguès, Catherine; Lejeune-Dumoulin, Sophie; Olivier-Faivre, Laurence; Polycarpe-Osaer, Florence; Nguyen, Tan Dat; Desseigne, Françoise; Saurin, Jean-Christophe; Berthet, Pascaline; Leroux, Dominique; Duffour, Jacqueline; Manouvrier, Sylvie; Frébourg, Thierry; Sobol, Hagay; Lasset, Christine; Bonaïti-Pellié, Catherine
JAMA: The Journal of the American Medical Association. Jun 08, 2011 305(22):2304-2310
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