부산대학교 도서관

Petit, Florence; Longoni, M.; Wells, J.; Maser, R. S.; Bogenschutz, E. L.; Dysart, M. J.; Contreras, H. T. M.; Frenois, Frederic; Pober, B. R.; Clark, R. D.; Giampietro, P. F.; Ropers, H. H.; Hu, H.; Loscertales, M.; Wagner, R.; Ai, X.; Brand, H.; Jourdain, A. S.; Delrue, M. A.; Gilbert-Dussardier, B.; Devisme, L.; Keren, B.; Mcculley, D. J.; Qiao, L.; Hernan, R.; Wynn, J.; Scott, T. M.; Calame, D. G.; Coban-Akdemir, Z.; Hernandez, P.; Hernandez-Garcia, A.; Yonath, H.; Lupski, J. R.; Shen, Y.; Chung, W. K.; Scott, D. A.; Bult, C. J.; Donahoe, P. K.; High, F. A.

American Journal of Human Genetics, vol 110, iss 10

Burak Tepe; Erica L. Macke; Marcello Niceta; Monika Weisz Hubshman; Oguz Kanca; Laura Schultz-Rogers; Yuri A. Zarate; G. Bradley Schaefer; Jorge Luis Granadillo De Luque; Daniel J. Wegner; Benjamin Cogne; Brigitte Gilbert-Dussardier; Xavier Le Guillou; Eric J. Wagner; Lynn S. Pais; Jennifer E. Neil; Ganeshwaran H. Mochida; Christopher A. Walsh; Nurit Magal; Valerie Drasinover; Mordechai Shohat; Tanya Schwab; Chris Schmitz; Karl Clark; Anthony Fine; Brendan Lanpher; Ralitza Gavrilova; Pierre Blanc; Lydie Burglen; Alexandra Afenjar; Dora Steel; Manju A. Kurian; Prab Prabhakar; Sophie Gößwein; Nataliya Di Donato; Enrico S. Bertini; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. 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Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica- Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.- G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B. Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Marco Tartaglia; Eric W. Klee

The American Journal of Human Genetics. 110:774-789

Abbott, Kristin M.; Banka, Siddharth; de Boer, Elke; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Denommé-Pichon, Anne-Sophie; Faivre, Laurence; Gilissen, Christian; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Martín, Estrella López; Macek, Milan, Jr.; Matalonga, Leslie; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Riess, Olaf; Rooryck, Caroline; Ryba, Lukas; Agathe, Jean-Madeleine de Sainte; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Trimouille, Aurélien; Verloes, Alain; Vissers, Lisenka; Vitobello, Antonio; Votypka, Pavel; Zguro, Kristina; Boer, Elke de; Cohen, Enzo; Danis, Daniel; Gao, Fei; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; te Paske, Iris B.A.W.; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; van der Velde, Joeri K.; Vandrovcova, Jana; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; ‘t Hoen, Peter A.C.; Vissers, Lisenka E.L.M.; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; Paske, Iris te; Janssen, Erik; Steehouwer, Marloes; Yaldiz, Burcu; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Alexander, Elizabeth; Duffourd, Yannis; Bruel, Ange-Line; Peyron, 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Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Varavallo, Alessandra; Banfi, Sandro; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Kerstjens Frederikse, Wilhemina S.; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; Lacombe, Didier; Trimouille, Aurelien; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueñas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Hackman, Peter; Udd, Bjarne; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Osorio, Andrés Nascimento; Depienne, Christel; Roos, Andreas; Cordts, Isabell; Deschauer, Marcus; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Başak, Ayşe Nazlı; Claeys, Kristl; Boztug, Kaan; Haimel, Matthias; W.E, Gijs; Ruivenkamp, Claudia A.L.; Natera de Benito, Daniel; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Radio, Francesca Clementina; Balicza, Peter; Molnar, Maria Judit; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Delgado, Beatriz Martínez; Alonso García de la Rosa, F. 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In Genetics in Medicine April 2023 25(4)

Heddar, Abdelkader ; Ogur, Cagri ; Da Costa, Sabrina ; Braham, Inès ; Billaud-Rist, Line ; Findikli, Necati ; Beneteau, Claire ; Reynaud, Rachel ; Mahmoud, Khaled ; Legrand, Stéphanie ; Marchand, Maud ; Cedrin-Durnerin, Isabelle ; Cantalloube, Adèle ; Peigne, Maeliss ; Bretault, Marion ; Dagher-Hayeck, Benedicte ; Perol, Sandrine ; Droumaguet, Celine ; Cavkaytar, Sabri ; Nicolas-Bonne, Carole ; Elloumi, Hanen ; Khrouf, Mohamed ; Rougier-LeMasle, Charlotte ; Fradin, Melanie ; Le Boette, Elsa ; Luigi, Perrine ; Guerrot, Anne-Marie ; Ginglinger, Emmanuelle ; Zampa, Amandine ; Fauconnier, Anais ; Auger, Nathalie ; Paris, Françoise ; Brischoux-Boucher, Elise ; Cabrol, Christelle ; Brun, Aurore ; Guyon, Laura ; Berard, Melanie ; Riviere, Axelle ; Gruchy, Nicolas ; Odent, Sylvie ; Gilbert-Dussardier, Brigitte ; Isidor, Bertrand ; Piard, Juliette ; Lambert, Laetitia ; Hamamah, Samir ; Guedj, Anne Marie ; Brac de la Perriere, Aude ; Fernandez, Hervé ; Raffin-Sanson, Marie-Laure ; Polak, Michel ; Letur, Hélène ; Epelboin, Sylvie ; Plu-Bureau, Genevieve ; Wołczyński, Sławomir ; Hieronimus, Sylvie ; Aittomaki, Kristiina ; Catteau-Jonard, Sophie ; Misrahi, Micheline

In eBioMedicine October 2022 84

Cordovado, Amélie; Schaettin, Martina; Jeanne, Mederic; Panasenkava, Veranika; Denommé‐pichon, Anne‐sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; Torti, Erin; Normand, Elizabeth A; Granger, Leslie; Petersen, Andrea K; Au, Margaret G; Matheny, Juliann P; Phornphutkul, Chanika; Chambers, Mary-Kathryn; Fernández-Ramos, Joaquín-Alejandro; López-Laso, Eduardo; Kruer, Michael; Bakhtiari, Somayeh; Zollino, Marcella; Morleo, Manuela; Marangi, Giuseppe; Mei, Davide; Pisano, Tiziana; Guerrini, Renzo; Louie, Raymond; Childers, Anna; Everman, David B; Isidor, Bertrand; Audebert‐bellanger, Séverine; Odent, Sylvie; Bonneau, Dominique; Gilbert-Dussardier, Brigitte; Redon, Richard; Bézieau, Stéphane; Laumonnier, Frederic; Stoeckli, Esther; Toutain, Annick; Vuillaume, Marie-Laure

RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname

Jedraszak, Guillaume; Jobic, Florence; Receveur, Aline; Bilan, Frédéric; Gilbert-Dussardier, Brigitte; Tiffany, Busa; Missirian, Chantal; Willems, Marjolaine; Odent, Sylvie; Lucas, Josette; Dubourg, Christele; Schaefer, Elise; Scheidecker, Sophie; Lespinasse, James; Goldenberg, Alice; Guerrot, Anne-Marie; Joly-Helas, Géraldine; Chambon, Pascal; Le Caignec, Cédric; David, Albert; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Amblard, Florence; Harbuz, Radu; Sanlaville, Damien; Till, Marianne; Vincent-Delorme, Catherine; Colson, Cindy; Andrieux, Joris; Naudion, Sophie; Toutain, Jérome; Rooryck, Caroline; de Fréminville, Bénédicte; Prieur, Fabienne; Daire, Valérie Cormier; Amram, Daniel; Kleinfinger, Pascale; Schulze, Matthias B.; Raabe-Meyer, Gisela; Courage, Carolina; Lemke, Johannes; Stefanou, Eunice G.; Loretta, Thomaidis; Emmanouil, Manolakos; Tzeli, Sophia Kitsiou; Sodowska, Henryka; Anderson, Jasen; Nandini, Adayapalam; Copin, Henri; Garçon, Loïc; Liehr, Thomas; Morin, Gilles

Pacot L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Blok M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Vidaud D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Fertitta L; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Coustier A; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Maillard T; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Barbance C; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Lallemand D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Ferkal S; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Funalot B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Lunati-Rozie A; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Hebrard B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Bhouri R; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.; Spruijt L; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Bessis D; Department of Dermatology and Reference Center for Rare Skin Diseases MAGEC-Sud Montpellier, Filière Maladies Rares Dermatologiques (FIMARAD), Saint-Eloi Hospital, and University of Montpellier, Montpellier, France.; Geneviève D; Inserm U1183, Department of Clinical Genetics, Reference center for rare disease developmental anomaly and malformative syndrome, CHU Montpellier, and Montpellier University, Montpellier, France.; Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Broen MPG; Department of Neurology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, The Netherlands.; Sigaudy S; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Odent S; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Damaj L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Quélin C; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Pasquier L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Layet V; Consultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France.; Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers, France.; Nicolas G; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Guerrot AM; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leheup B; Service de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, Vandoeuvre-lès-Nancy, France.; Bursztejn AC; Department of Dermatology, CHRU Nancy, Vandoeuvre-lès-Nancy, France.; Petit F; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.; Boute-Bénéjean O; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.; Capri Y; UF de Génétique Clinique, CHU Robert Debré, Paris, France.; Guimier A; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Lyonnet S; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Baujat G; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Bourrat E; Department of Dermatology, MAGEC-Nord Hôpital Saint Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.; Isidor B; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.; Nizon M; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.; Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes University, Nantes, France.; Toutain A; Department of Genetics, Bretonneau University Hospital, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France.; Van-Gils J; Département de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France.; Audebert-Bellanger S; Service de Pédiatrie et de Génétique Médicale, CHRU Morvan, Brest, France.; Mazereeuw-Hautier J; Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France.; Ziegler A; Department of Genetics, University Hospital of Toulouse, Toulouse, France.; Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; UMR1231 GAD, Inserm, Université de Bourgogne, Dijon, France.; Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Guerrini-Rousseau L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.; Morera J; Department of Endocrinology and Diabetology, CHU Côte de Nacre, Caen, France.; Paquis-Flucklinger V; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.; Delobel B; Service de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France.; Alessandri JL; service de pédiatrie, CHU Féleix Guyon, Saint-Denis, France.; Parfait B; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Pasmant E; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France eric.pasmant@inserm.fr.; Genetics Department, Institut Curie, Paris, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sebastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric

American Journal of Human Genetics, vol 108, iss 5

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

In Genetics in Medicine September 2022 24(9):1941-1951

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R.A.E.M.; Tomlinson, I.; Torres, D.; Torres-Mejía, G.; Troester, M.A.; Truong, T.; Tung, N.; Tzardi, M.; Ulmer, H.-U.; Vachon, C.M.; van der Kolk, L.E.; van Rensburg, E.J.; Vega, A.; Viel, A.; Vijai, J.; Vogel, M.J.; Wang, Q.; Wappenschmidt, B.; Weinberg, C.R.; Weitzel, J.N.; Wendt, C.; Wildiers, H.; Winqvist, R.; Wolk, A.; Wu, A.H.; Yannoukakos, D.; Zhang, Y.; Zheng, W.; Hunter, D.; Pharoah, P.D.P.; Chang-Claude, J.; García-Closas, M.; Schmidt, M.K.; Kristensen, V.N.; French, J.D.; Edwards, S.L.; Antoniou, A.C.; Simard, J.; Easton, D.F.; Kraft, P.; Dunning, A.M.; Collaborators, GEMO Study; Collaborators, EMBRACE; Investigators, KConFab; Investigators, HEBON; Investigators, ABCTB

Nat Genet
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Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Moradi Marjaneh, M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, I W, Brooks-Wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Cai, Q, Caldés, T, Caligo, M A, Camp, N J, Campbell, I, Canzian, F, Carroll, J S, Carter, B D, Castelao, J E, Chiquette, J, Christiansen, H, Chung, W K, Claes, K B M, Clarke, C, Mari, V, Berthet, P, Castera, L, Vaur, D, Lallaoui, H, Bignon, Y-J, Uhrhammer, N, Bonadona, V, Lasset, C, Révillion, F, Vennin, P, Muller, D, Gomes, D M, Ingster, O, Coupier, I, Pujol, P, Collonge-Rame, M-A, Mortemousque, I, Bera, O, Rose, M, Baurand, A, Bertolone, G, Faivre, L, Dreyfus, H, Leroux, D, Venat-Bouvet, L, Bézieau, S, Delnatte, C, Chiesa, J, Gilbert-Dussardier, B, Gesta, P, Prieur, F P, Bronner, M, Sokolowska, J, Coulet, F, Boutry-Kryza, N, Calender, A, Giraud, S, Leone, M, Fert-Ferrer, S, Stoppa-Lyonnet, D, Jiao, Y, Lesueur, F L, Mebirouk, N, Barouk-Simonet, E, Bubien, V, Longy, M, Sevenet, N, Gladieff, L, Toulas, C, Reimineras, A, Sobol, H, Paillerets, B B, Cabaret, O, Caron, O, Guillaud-Bataille, M, Rouleau, E, Belotti, M, Buecher, B, Caputo, S, Colas, C, Pauw, A D, Fourme, E, Gauthier-Villars, M, Golmard, L, Moncoutier, V, Saule, C, Donaldson, A, Murray, A, Brady, A, Brewer, C, Pottinger, C, Miller, C, Gallagher, D, Gregory, H, Cook, J, Eason, J, Adlard, J, Barwell, J, Ong, K-R, Snape, K, Walker, L, Izatt, L, Side, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Ahmed, M, Morrison, P J, Brennan, P, Eeles, R, Davidson, R, Collée, J M, Cornelissen, S, Couch, F J, Cox, A, Cross, S S, Cybulski, C, Czene, K, Daly, M B, de la Hoya, M, Devilee, P, Diez, O, Ding, Y C, Dite, G S, Domchek, S M, Dörk, T, dos-Santos-Silva, I, Droit, A, Dubois, S, Dumont, M, Duran, M, Durcan, L, Dwek, M, Eccles, D M, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Fletcher, O, Floris, G, Flyger, H, Foretova, L, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gago-Dominguez, M, Gambino, G, Ganz, P A, Gapstur, S M, Garber, J, García-Sáenz, J A, Gaudet, M M, Georgoulias, V, Giles, G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Tibiletti, M G, Greene, M H, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hartikainen, J M, Hartman, M, He, W, Healey, C S, Heemskerk-Gerritsen, B A M, Heyworth, J, Hillemanns, P, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hopper, J L, Howell, A, Huang, G, Hulick, P J, Imyanitov, E N, Sexton, A, Christian, A, Trainer, A, Spigelman, A, Fellows, A, Shelling, A, Fazio, A D, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Clarke, C, Saunders, C, Hunt, C, Scott, C, Amor, D, Marsh, D, Edkins, E, Salisbury, E, Haan, E, Neidermayr, E, Macrea, F, Farshid, G, Lindeman, G, Trench, G, Mann, G, Giles, G, Gill, G, Thorne, H, Hickie, I, Winship, I, Flanagan, J, Kollias, J, Visvader, J, Stone, J, Taylor, J, Burke, J, Saunus, J, Forbes, J, Hopper, J, Kirk, J, French, J, Tucker, K, Wu, K, Phillips, K, Lipton, L, Andrews, L, Lobb, L, Walker, L, Kentwell, M, Spurdle, M, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, M A, Delatycki, M, Wallis, M, Pedersen, I S & Dunning, A M 2020, 'Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes', Nature Genetics, vol. 52, no. 1, pp. 56-73. https://doi.org/10.1038/s41588-019-0537-1
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators 2020, 'Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes', Nature Genetics, vol. 52, no. 1, pp. 56-73. https://doi.org/10.1038/s41588-019-0537-1
Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Marjaneh, M M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-Culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Christiansen, H, Pedersen, I S, Shen, C Y, Thomassen, M, ABCTB Investigators, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, Bojesen, S E, Flyger, H, Nielsen, F C & Rossing, M 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Fachal, L, Aschard, H, Beesley, J, Barnes, D R, Allen, J, Kar, S, Pooley, K A, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, J P, Ghoussaini, M, Moradi Marjaneh, M, Jiang, X, Agata, S, Aittomäki, K, Alonso, M R, Andrulis, I L, Anton-culver, H, Antonenkova, N N, Arason, A, Arndt, V, Aronson, K J, Arun, B K, Auber, B, Auer, P L, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Beeghly-fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, A M, Blomqvist, C, Blot, W, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, I W, Brooks-wilson, A, Brüning, T, Burwinkel, B, Buys, S S, Cai, Q, Caldés, T, Caligo, M A, Camp, N J, Campbell, I, Canzian, F, Carroll, J S, Carter, B D, Castelao, J E, Chiquette, J, Christiansen, H, Chung, W K, Claes, K B M, Clarke, C L, Collée, J M, Cornelissen, S, Couch, F J, Cox, A, Cross, S S, Cybulski, C, Czene, K, Daly, M B, De La Hoya, M, Devilee, P, Diez, O, Ding, Y C, Dite, G S, Domchek, S M, Dörk, T, Dos-santos-silva, I, Droit, A, Dubois, S, Dumont, M, Duran, M, Durcan, L, Dwek, M, Eccles, D M, Engel, C, Eriksson, M, Evans, D G, Fasching, P A, Fletcher, O, Floris, G, Flyger, H, Foretova, L, Foulkes, W D, Friedman, E, Fritschi, L, Frost, D, Gabrielson, M, Gago-dominguez, M, Gambino, G, Ganz, P A, Gapstur, S M, Garber, J, García-sáenz, J A, Gaudet, M M, Georgoulias, V, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-neira, A, Tibiletti, M G, Greene, M H, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Harrington, P A, Hartikainen, J M, Hartman, M, He, W, Healey, C S, Heemskerk-gerritsen, B A M, Heyworth, J, Hillemanns, P, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hopper, J L, Howell, A, Huang, G, Hulick, P J, Imyanitov, E N, Isaacs, C, Iwasaki, M, Jager, A, Jakimovska, M, Jakubowska, A, James, P A, Janavicius, R, Jankowitz, R C, John, E M, Johnson, N, Jones, M E, Jukkola-vuorinen, A, Jung, A, Kaaks, R, Kang, D, Kapoor, P M, Karlan, B Y, Keeman, R, Kerin, M J, Khusnutdinova, E, Kiiski, J I, Kirk, J, Kitahara, C M, Ko, Y, Konstantopoulou, I, Kosma, V, Koutros, S, Kubelka-sabit, K, Kwong, A, Kyriacou, K, Laitman, Y, Lambrechts, D, Lee, E, Leslie, G, Lester, J, Lesueur, F, Lindblom, A, Lo, W, Long, J, Lophatananon, A, Loud, J T, Lubiński, J, Macinnis, R J, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, M E, Matsuo, K, Maurer, T, Mavroudis, D, Mayes, R, Mcguffog, L, Mclean, C, Mebirouk, N, Meindl, A, Miller, A, Miller, N, Montagna, M, Moreno, F, Muir, K, Mulligan, A M, Muñoz-garzon, V M, Muranen, T A, Narod, S A, Nassir, R, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Neven, P, Nielsen, F C, Nikitina-zake, L, Norman, A, Offit, K, Olah, E, Olopade, O I, Olsson, H, Orr, N, Osorio, A, Pankratz, V S, Papp, J, Park, S K, Park-simon, T, Parsons, M T, Paul, J, Pedersen, I S, Peissel, B, Peshkin, B, Peterlongo, P, Peto, J, Plaseska-karanfilska, D, Prajzendanc, K, Prentice, R, Presneau, N, Prokofyeva, D, Pujana, M A, Pylkäs, K, Radice, P, Ramus, S J, Rantala, J, Rau-murthy, R, Rennert, G, Risch, H A, Robson, M, Romero, A, Rossing, M, Saloustros, E, Sánchez-herrero, E, Sandler, D P, Santamariña, M, Saunders, C, Sawyer, E J, Scheuner, M T, Schmidt, D F, Schmutzler, R K, Schneeweiss, A, Schoemaker, M J, Schöttker, B, Schürmann, P, Scott, C, Scott, R J, Senter, L, Seynaeve, C M, Shah, M, Sharma, P, Shen, C, Shu, X, Singer, C F, Slavin, T P, Smichkoska, S, Southey, M C, Spinelli, J J, Spurdle, A B, Stone, J, Stoppa-lyonnet, D, Sutter, C, Swerdlow, A J, Tamimi, R M, Tan, Y Y, Tapper, W J, Taylor, J A, Teixeira, M R, Tengström, M, Teo, S H, Terry, M B, Teulé, A, Thomassen, M, Thull, D L, Tischkowitz, M, Toland, A E, Tollenaar, R A E M, Tomlinson, I, Torres, D, Torres-mejía, G, Troester, M A, Truong, T, Tung, N, Tzardi, M, Ulmer, H, Vachon, C M, Van Asperen, C J, Van Der Kolk, L E, Van Rensburg, E J, Vega, A, Viel, A, Vijai, J, Vogel, M J, Wang, Q, Wappenschmidt, B, Weinberg, C R, Weitzel, J N, Wendt, C, Wildiers, H, Winqvist, R, Wolk, A, Wu, A H, Yannoukakos, D, Zhang, Y, Zheng, W, Hunter, D, Pharoah, P D P, Chang-claude, J, García-closas, M, Schmidt, M K, Milne, R L, Kristensen, V N, French, J D, Edwards, S L, Antoniou, A C, Chenevix-trench, G, Simard, J, Easton, D F, Kraft, P & Dunning, A M 2020, ' Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes ', Nature Genetics, vol. 52, no. 1, pp. 56-73 . https://doi.org/10.1038/s41588-019-0537-1
Evans, D G, Lophatananon, A, Muir, K & et al. 2020, 'Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes', Nature Genetics, vol. 52, no. 1, pp. 56-73. https://doi.org/10.1038/s41588-019-0537-1
Nature genetics, vol 52, iss 1
Nature Genetics

Vegas N; General Pediatrics Unit, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France. nancy.vegas@aphp.fr.; Malformation and Embryology Laboratory, IMAGINE Institute, Paris, France. nancy.vegas@aphp.fr.; Université Paris Cité, Paris, France. nancy.vegas@aphp.fr.; Reference Centre for Rare Diseases Centre de Référence Maladies Rares « Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux », Necker University Hospital, Paris, France. nancy.vegas@aphp.fr.; Rio M; Medical Genetics Department, Necker University Hospital, Paris, France.; Adnot P; General Pediatrics Unit, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France.; Université Paris Cité, Paris, France.; Reference Centre for Rare Diseases Centre de Référence Maladies Rares « Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux », Necker University Hospital, Paris, France.; Soupre V; Reference Centre for Rare Diseases Centre de Référence Maladies Rares « Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux », Necker University Hospital, Paris, France.; Maxillo-Facial and Plastic Surgery Unit, Necker University Hospital, Paris, France.; Petit F; Clinique de Génétique Guy Fontaine, CHU Lille, Hôpital Jeanne de Flandre, Lille, France.; Ghoumid J; Clinique de Génétique Guy Fontaine, CHU Lille, Hôpital Jeanne de Flandre, Lille, France.; Toutain A; Service de Génétique, CHRU de Tours, Hôpital Bretonneau, Tours, France.; Dieterich K; Unité de Génétique Clinique, CHU Grenoble, Hôpital Couple-Enfant, Grenoble, France.; Marey I; Unité de Génétique Clinique, CHU Grenoble, Hôpital Couple-Enfant, Grenoble, France.; Gilbert-Dussardier B; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.; Le Guyader G; Service de Génétique Médicale, CHU de Poitiers, Poitiers, France.; Francannet C; Service de Génétique Médicale, CHU de Clermont-Ferrand, Hôpital d'Estaing, Clermont-Ferrand, France.; Schaefer E; Service de Génétique Médicale, CHU de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.; Perrin L; Unité de Génétique Clinique, CHU Paris, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.; Nizon M; Unité de Génétique Clinique, CHU de Nantes, Nantes, France.; Beneteau C; Unité de Génétique Clinique, CHU de Nantes, Nantes, France.; Genevieve D; Département de Génétique Médicale, CHU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France.; Willems M; Département de Génétique Médicale, CHU de Montpellier, Hôpital Arnaud de Villeneuve, Montpellier, France.; Faivre L; Centre de Génétique, Hôpital d'enfants, CHU Dijon Bourgogne, Hôpital François Mitterand, Dijon, France.; Grimaldi M; Centre de Génétique, Hôpital d'enfants, CHU Dijon Bourgogne, Hôpital François Mitterand, Dijon, France.; Melki J; Unité de Génétique Médicale - Médecine néonatale, Centre Hospitalier Sud Francilien and INSERM, UMR-1195, Le Kremlin-Bicêtre, France.; Stoeva R; Laboratoire de Génétique Médicale et Cytogénétique, Centre Hospitalier Le Mans, Le Mans, France.; Putoux A; Service de Génétique, CHU de Lyon, GH Est-Hôpital Femme Mère Enfant, Lyon, France.; Pons L; Laboratoire de Biologie Médicale, Unité Fonctionnelle de Cytogénétique, Centre Hospitalier de Valence, Valence, France.; Benistan K; Service de Génétique, Hôpital Raymond Poincaré, Assistance Publique-Hôpitaux de Paris, Garches, France.; Amiel J; Malformation and Embryology Laboratory, IMAGINE Institute, Paris, France.; Université Paris Cité, Paris, France.; Medical Genetics Department, Necker University Hospital, Paris, France.; Abadie V; General Pediatrics Unit, Necker University Hospital, Assistance Publique-Hôpitaux de Paris, 149 rue de Sèvres, 75015, Paris, France.; Université Paris Cité, Paris, France.; Reference Centre for Rare Diseases Centre de Référence Maladies Rares « Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux », Necker University Hospital, Paris, France.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

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