학술논문
'학술논문'
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1~10
Academic Journal
de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle; Bryant, Emily; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen; Friedman, Jennifer; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn; Owens, Joshua; Husami, Ammar; Chaudhari, Bimal; Stone, Brandon; Burns, Katie; Li, Rachel; de Lange, Iris; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf; Trimouille, Aurélien; Argilli, Emanuela
Journal of Medical Genetics. 60(10)
Academic Journal
Husson, Thomas; Lecoquierre, François; Nicolas, Gaël; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Séverine; Badens, Catherine; Bilan, Frédéric; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noëlle; Brischoux-Boucher, Elise; Bonnet, Céline; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogné, Benjamin; Colin, Estelle; Cormier-Daire, Valérie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-François; Demurger, Florence; Denommé-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christèle; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Mélanie; Garde, Aurore; Geneviève, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Inès; Héron, Delphine; Isidor, Bertrand; Lacombe, Didier; Le Guillou Horn, Xavier; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoë; Lehalle, Daphné; Lesca, Gaëtan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godeliève; Jean-Marçais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amélie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quélin, Chloé; Quemener-Redon, Sylvia; Rama, Mélanie; Rio, Marlène; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurélien; Van Gils, Julien; Vanlerberghe, Clémence; Vantalon, Valérie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
European Journal of Human Genetics. 32(2):190-199
Academic Journal
de Thonel, Aurélie; Ahlskog, Johanna K.; Daupin, Kevin; Dubreuil, Véronique; Berthelet, Jérémy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluís Cordón; Leray, Isabelle; Aalto, Anna L.; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carène; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C.; Miozzo, Federico; Fergelot, Patricia; Lebigot, Élise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D.; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Sabéran-Djoneidi, Délara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valérie
Nature Communications. 14(1)
Academic Journal
Bergougnoux, A.; Billet, A.; Ka, C.; Heller, M.; Degrugillier, F.; Vuillaume, M.-L.; Thoreau, V.; Sasorith, S.; Bareil, C.; Thèze, C.; Ferec, C.; Gac, G. Le; Bienvenu, T.; Bieth, E.; Gaston, V.; Lalau, G.; Pagin, A.; Malinge, M.-C.; Dufernez, F.; Lemonnier, L.; Koenig, M.; Fergelot, P.; Claustres, M.; Taulan-Cadars, M.; Kitzis, A.; Reboul, M.-P.; Becq, F.; Fanen, P.; Mekki, C.; Audrezet, M.-P.; Girodon, E.; Raynal, C.
In Journal of Cystic Fibrosis May 2023 22(3):515-524
Academic Journal
Aurélie de Thonel; Johanna K. Ahlskog; Kevin Daupin; Véronique Dubreuil; Jérémy Berthelet; Carole Chaput; Geoffrey Pires; Camille Leonetti; Ryma Abane; Lluís Cordón Barris; Isabelle Leray; Anna L. Aalto; Sarah Naceri; Marine Cordonnier; Carène Benasolo; Matthieu Sanial; Agathe Duchateau; Anniina Vihervaara; Mikael C. Puustinen; Federico Miozzo; Patricia Fergelot; Élise Lebigot; Alain Verloes; Pierre Gressens; Didier Lacombe; Jessica Gobbo; Carmen Garrido; Sandy D. Westerheide; Laurent David; Michel Petitjean; Olivier Taboureau; Fernando Rodrigues-Lima; Sandrine Passemard; Délara Sabéran-Djoneidi; Laurent Nguyen; Madeline Lancaster; Lea Sistonen; Valérie Mezger
Nature Communications, Vol 13, Iss 1, Pp 1-21 (2022)
Academic Journal
Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada.; Bout HJ; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands.; Schijns JM; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada.; Bhai P; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada.; Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.; Williams EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.; Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.; Huisman SA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands; Zodiak, Prinsenstichting, Purmerend, JE 1444, the Netherlands.; Lauffer P; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam 1105 AZ, the Netherlands.; de Waard V; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam Cardiovascular Sciences, Amsterdam, AZ 1105, the Netherlands.; Witteveen L; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow HA1 3UJ, UK.; Galazzi E; Department of Endocrine & Metabolic Diseases, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20100 Milan, Italy.; van Gils J; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France.; Hurst ACE; Department of Genetics, University of Alabama, Birmingham, AL 35294-0024, USA.; Kaiser FJ; Institute of Human Genetics, University of Duisburg-Essen, 45122 Essen, Germany; Center for Rare Diseases, University Hospital Essen, 45122 Essen, Germany.; Lacombe D; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France.; Martinez-Monseny AF; Genètica Clínica, Servei de Medicina Genètica i Molecular, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Fergelot P; Centre Hospitalier Universitaire Bordeaux, 33404 Bordeaux, France.; Monteiro FP; Alameda dos Maracatins, Indianópolis, São Paulo 1435, Brazil.; Parenti I; Institute of Human Genetics, University of Duisburg-Essen, 45122 Essen, Germany.; Persani L; Department of Endocrine & Metabolic Diseases, San Luca Hospital, IRCCS Istituto Auxologico Italiano, 20100 Milan, Italy; Department of Medical Biotechnology and Translational Medicine, University of Milan, 20100 Milan, Italy.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain; Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitari Son Espases, Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma, Spain.; Simpson BN; Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, OH 45206, USA.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam 1105 AZ, the Netherlands.; Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, 1105 Amsterdam, AZ, the Netherlands. Electronic address: l.a.menke@amsterdamumc.nl.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE
Academic Journal
Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A.; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A.; Tooke, Lloyd; van der Zee, Jill A.; Van Genderen, Maria M.; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H. M.; Cueto-Gonzalez, Anna M.; Dominguez-Garrido, Elena; Duijkers, Floor A.; Fergelot, Patricia; Halstead, Elisabeth; Huisman, Sylvia A.; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M.; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Pena, Rebecca Rodriguez; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N.; Smith, David F.; Stevens, Markus F.; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Palafoll, Irene Valenzuena; van der Kaay, Danielle C. M.; Van Wijk, Michiel P.; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C.
Academic Journal
de Thonel, Aurélie; Ahlskog, Johanna K.; Daupin, Kevin; Dubreuil, Véronique; Berthelet, Jérémy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluís Cordón; Leray, Isabelle; Aalto, Anna L.; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carène; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C.; Miozzo, Federico; Fergelot, Patricia; Lebigot, Élise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D.; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Sabéran-Djoneidi, Délara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valérie
Nature Communications. 13(1)
Academic Journal
Aurélie de Thonel; Johanna K. Ahlskog; Kevin Daupin; Véronique Dubreuil; Jérémy Berthelet; Carole Chaput; Geoffrey Pires; Camille Leonetti; Ryma Abane; Lluís Cordón Barris; Isabelle Leray; Anna L. Aalto; Sarah Naceri; Marine Cordonnier; Carène Benasolo; Matthieu Sanial; Agathe Duchateau; Anniina Vihervaara; Mikael C. Puustinen; Federico Miozzo; Patricia Fergelot; Élise Lebigot; Alain Verloes; Pierre Gressens; Didier Lacombe; Jessica Gobbo; Carmen Garrido; Sandy D. Westerheide; Laurent David; Michel Petitjean; Olivier Taboureau; Fernando Rodrigues-Lima; Sandrine Passemard; Délara Sabéran-Djoneidi; Laurent Nguyen; Madeline Lancaster; Lea Sistonen; Valérie Mezger
Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)
Academic Journal
Taupiac, Emmanuelle; Lacombe, Didier; Thiébaut, Eric; Van-Gils, Julien; Michel, Grégory; Fergelot, Patricia; Adrien, Jean-Louis
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