학술논문
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'학술논문'
에서 검색결과 343건 | 목록
1~20
Academic Journal
Campos-Ribeiro, Márcio Augusto; Donnarumma, Erminia; Nolte, Hendrik; Cobine, Paul; Vimont, Elodie; Milenkovic, Dusanka; Hernandez-Camacho, Juan Diego; Langa-Vives, Francina; Kornobis, Etienne; Pénard, Esthel; Yde, Sonny; Langer, Thomas; Paquis-Flucklinger, Véronique; Wai, Timothy
EMBO Molecular Medicine. 18(2):542-574
Academic Journal
Claire, Almyre; Nolwenn, Bounaix; François, Godard; Olivier R, Baris; Anne-Louise, Cayer; Elodie, Sardin; Marine, Bouhier; Anaïs, Hoarau; Laetitia, Dard; Jérémy, Richard; Vanessa, Bergeron; Aurélie, Renaud; Nadege, Loaëc; Naïg, Gueguen; Valérie, Desquiret-Dumas; Bénédicte, Lelievre; Aurore, Inisan; Cristina, Panozzo; Genevève, Dujardin; Marc, Blondel; Agnes, Rötig; Véronique, Paquis-Flucklinger; Stéphane, Azoulay; Nathalie, Bonnefoy; Carole H, Sellem; Agnès, Delahodde; Vincent, Procaccio; Déborah, Tribouillard-Tanvier
Human Molecular Genetics. 34:1072-1085
Academic Journal
Genin, Emmanuelle C.; Lespinasse, Françoise; Mauri-Crouzet, Alessandra; Dupuis, Luc; Paquis-Flucklinger, Véronique
International Journal of Molecular Sciences. November, 2025, Vol. 26 Issue 22
Academic Journal
Current Opinion in Neurobiology. 97
Academic Journal
Ropert, Baptiste; Bannwarth, Sylvie; Genin, Emmanuelle; Vaillant-Beuchot, Loan; Lacas-Gervais, Sandra; Hounoum, Blandine Madji; Bernardin, Aurore; Dinh, Nhu; Mauri-Crouzet, Alessandra; D’elia, Marc-Alexandre; Augé, Gaelle; Lespinasse, Françoise; Di Giorgio, Audrey; Meira, Willian; Bonnefoy, Nathalie; Monassier, Laurent; Schiff, Manuel; Sago, Laila; Kilinc, Devrim; Brau, Frédéric; Redeker, Virginie; Bohl, Delphine; Tribouillard-Tanvier, Déborah; Procaccio, Vincent; Azoulay, Stéphane; Ricci, Jean-Ehrland; Delahodde, Agnès; Paquis-Flucklinger, Véronique
Brain. 148:1665-1679
Academic Journal
Hoebeke, Célia ; Engel, Camille ; Berat, Claire-Marine ; Milh, Mathieu ; Chaussenot, Annabelle ; Boddaert, Nathalie ; Chabrol, Brigitte ; Saadi, Samira Ait-El-Mkadem ; Fragaki, Konstantina ; Pereira, Silvia ; Lepelley, Alice ; Bannwarth, Sylvie ; Navarro, Lucile Riera ; Paquis-Flucklinger, Véronique ; Schiff, Manuel ; Sissler, Marie ; Rouzier, Cécile
In Mitochondrion May 2026 88
Academic Journal
Sellem, Carole H. ; Bounaix, Nolwenn ; Logerais, Mathilde ; Renaud, Aurélie ; d'Elia, Marc Alexandre ; Richard, Jeremy ; Almyre, Claire ; Becker, Guillaume ; Rivron, Jordan ; Hoarau, Anaïs ; Gueguen, Naïg ; Desquiret-Dumas, Valérie ; Inisan, Aurore ; Belal, Sophie ; Mellinger, Adélie ; Godard, François ; Paquis-Flucklinger, Véronique ; Baris, Olivier R. ; Azoulay, Stéphane ; Delahodde, Agnès ; Tribouillard-Tanvier, Déborah ; Bonnefoy, Nathalie ; Procaccio, Vincent
In Life Sciences 1 April 2026 390
Academic Journal
Cécile Rouzier; Emmanuelle Pion; Annabelle Chaussenot; Céline Bris; Samira Ait‐El‐Mkadem Saadi; Valérie Desquiret‐Dumas; Naïg Gueguen; Konstantina Fragaki; Patrizia Amati‐Bonneau; Giulia Barcia; Pauline Gaignard; Julie Steffann; Alessandra Pennisi; Jean‐Paul Bonnefont; Elise Lebigot; Sylvie Bannwarth; Bruno Francou; Benoit Rucheton; Damien Sternberg; Marie‐Laure Martin‐Negrier; Aurélien Trimouille; Gaëlle Hardy; Stéphane Allouche; Cécile Acquaviva‐Bourdain; Cécile Pagan; Anne‐Sophie Lebre; Pascal Reynier; Mireille Cossee; Shahram Attarian; Véronique Paquis‐Flucklinger; MitoDiag's Network Collaborators; Vincent Procaccio
Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Academic Journal
Lopriore, Piervito; Unluturk, Zeynep; Klopstock, Thomas; Karaa, Amel; Rouzier, Cecile; Dominguez-Gonzalez, Cristina; Lamperti, Costanza; Mancuso, Michelangelo; Cecchi, Giulia; Montano, Vincenzo; Siciliano, Gabriele; Nicoletta, Valeria; Maioli, Mariantonietta; Primiano, Guido; Servidei, Serenella; La Morgia, Chiara; Carelli, Valerio; Valentino, Maria Lucia; Caporali, Leonardo; Arena, Ignazio Giuseppe; Musumeci, Olimpia; Lopergolo, Diego; Malandrini, Alessandro; Gallus, Gian Nicola; Filosto, Massimiliano; Bello, Luca; Pegoraro, Elena; Comi, Giacomo Pietro; Magri, Francesca; Ronchi, Dario; Di Fonzo, Alessio; Percetti, Marco; Azzimonti, Matteo; Buchner, Boriana; Prokisch, Holger; Bermejo-Guerrero, Laura; Procaccio, Vincent; Gaignard, Pauline; Echaniz-Laguna, Andoni; Schiff, Manuel; Rotig, Agnes; Toutain, Annick; Paquis-Flucklinger, Veronique; Morel, Godelieve; Robin, Stephanie; Nadaj-Pakleza, Aleksandra; Chanson, Jean-Baptiste; Chaussenot, Annabelle; Ait-El-Mkadem Saadi, Samira; Trimouille, Aurelien; Tranchant, Christine; Salort-Campana, Emmanuelle; Bieth, Eric; Sacconi, Sabrina; Duval, Fanny; Restrepo Vera, Juan Luis; Molnar, Maria Judit; Vissing, John; Haas, Richard; Larson, Austin; Enns, Gregory M.; Parikh, Sumit; Goldstein, Amy; Hirano, Michio; Twinkle Related Disorders Int Consortium Trial Readiness TReDIC
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Academic Journal
Pacot, Laurence; Blok, Marinus; Vidaud, Dominique; Fertitta, Laura; Laurendeau, Ingrid; Coustier, Audrey; Maillard, Theodora; Barbance, Cécile; Hadjadj, Djihad; Ye, Manuela; Lallemand, Dominique; Ferkal, Salah; Funalot, Benoit; Lunati-Rozie, Ariane; Hebrard, Bérénice; Bhouri, Rakia; Spruijt, Liesbeth; Bessis, Didier; Geneviève, David; Vernimmen, Vivian; Broen, Martinus; Sigaudy, Sabine; Odent, Sylvie; Damaj, Léna; Quélin, Chloé; Pasquier, Laurent; Layet, Valérie; Gilbert-Dussardier, Brigitte; Nicolas, Gaël; Guerrot, Anne-Marie; Leheup, Bruno; Bursztejn, Anne-Claire; Petit, Florence; Boute-Bénéjean, Odile; Capri, Yline; Guimier, Anne; Lyonnet, Stanislas; Baujat, Genevieve; Bourrat, Emmanuelle; Isidor, Bertrand; Nizon, Mathilde; Barbarot, Sébastien; Toutain, Annick; Blesson, Sophie; Van-Gils, Julien; Morice-Picard, Fanny; Audebert-Bellanger, Séverine; Mazereeuw-Hautier, Juliette; Ziegler, Alban; Alembik, Yves; Piard, Juliette; Brischoux-Boucher, Elise; Guerrini-Rousseau, Léa; Morera, Julia; Paquis-Flucklinger, Véronique; Delobel, Bruno; Alessandri, Jean-Luc; Parfait, Béatrice; Wolkenstein, Pierre; Pasmant, Eric
Journal of Medical Genetics. :jmg-2025
Academic Journal
Genin, Emmanuelle C. ; di Borgo, Pauline Pozzo ; Lorivel, Thomas ; Hugues, Sandrine ; Farinelli, Mélissa ; Mauri-Crouzet, Alessandra ; Lespinasse, Françoise ; Godin, Lucas ; Paquis-Flucklinger, Véronique ; Petit-Paitel, Agnès
In Neurobiology of Disease 1 June 2024 195
Academic Journal
David Pratella; Véronique Duboc; Marco Milanesio; John Boudjarane; Stéphane Descombes; Véronique Paquis-Flucklinger; Silvia Bottini
Comput Struct Biotechnol J
Computational and Structural Biotechnology Journal, Vol 20, Iss, Pp 1028-1035 (2022)
Computational and Structural Biotechnology Journal, Vol 20, Iss, Pp 1028-1035 (2022)
Academic Journal
Yeşim Kesim; Fabiola Ceroni; Alejandra Damián; Fiona Blanco‐Kelly; Carmen Ayuso; Kathy Williamson; Véronique Paquis‐Flucklinger; Dorine A. Bax; Julie Plaisancié; Claudine Rieubland; Mostafa Chamlal; Marta Cortón; Nicolas Chassaing; Patrick Calvas; Nicola Ragge
Eur J Hum Genet
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy;Paquis -Flucklinger , Véronique ; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K (2023). Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. European journal of human genetics, 31(10), pp. 1175-1180. Springer Nature 10.1038/s41431-023-01342-8
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy;
Academic Journal
Labory, Justine; Boulaimen, Youssef; Singh, Jasmine; Saadi, Samira Ait-El-Mkadem; Paquis-Flucklinger, Veronique; Bannwarth, Sylvie; Bottini, Silvia
Academic Journal
Rym Maamouri; Syrine Hizem; Ines Kammoun; Yasmina Elaribi; Imen Rejeb; Molka Sebai; Houweyda Jilani; Cécile Rouzier; Monia Cheour; Véronique Paquis-Flucklinger; Lamia Ben Jemaa
Ophthalmic Genetics. 44:304-312
Academic Journal
Maillard, Pierre‐yves; Baer, Sarah; Schaefer, Elise; Desnous, Béatrice; Villeneuve, Nathalie; Lépine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amélie; Porter, Louise Frances; Perriard, Caroline; Abi-Wardé, Marie-Thérèse; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaëtan; Putoux, Audrey; Ville, Dorothée; Mignot, Cyril; Héron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlène; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Véronique; Patat, Olivier; Lefranc, Jérémie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; de Saint Martin, Anne; Milh, Mathieu
Epilepsia
Academic Journal
Genin, Emmanuelle; Bannwarth, Sylvie; Ropert, Baptiste; Lespinasse, Françoise; Mauri-Crouzet, Alessandra; Augé, Gaelle; Fragaki, Konstantina; Cochaud, Charlotte; Donnarumma, Erminia; Lacas-Gervais, Sandra; Wai, Timothy; Paquis-Flucklinger, Véronique
Brain. 145:3415-3430
Academic Journal
Kesim, Yesim; Ceroni, Fabiola; Damián, Alejandra; Blanco-Kelly, Fiona; Ayuso, Carmen; Williamson, Kathy; Paquis-Flucklinger, Véronique; Bax, Dorine A; Plaisancié, Julie; Rieubland, Claudine; Chamlal, Mostafa; Cortón, Marta; Chassaing, Nicolas; Calvas, Patrick; Ragge, Nicola K
European Journal of Human Genetics. 31(10):1196-1198
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[검색어] Paquis‐Flucklinger, Véronique
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