학술논문
'학술논문'
에서 검색결과 16건 | 목록
1~10
Academic Journal
Charlotte Gehin; Museer A. Lone; Winston Lee; Laura Capolupo; Sylvia Ho; Adekemi M. Adeyemi; Erica H. Gerkes; Alexander P.A. Stegmann; Estrella López-Martín; Eva Bermejo-Sánchez; Beatriz Martínez-Delgado; Christiane Zweier; Cornelia Kraus; Bernt Popp; Vincent Strehlow; Daniel Gräfe; Ina Knerr; Eppie R. Jones; Stefano Zamuner; Luciano A. Abriata; Vidya Kunnathully; Brandon E. Moeller; Anthony Vocat; Samuel Rommelaere; Jean-Philippe Bocquete; Evelyne Ruchti; Greta Limoni; Marine Van Campenhoudt; Samuel Bourgeat; Petra Henklein; Christian Gilissen; Bregje W. van Bon; Rolph Pfundt; Marjolein H. Willemsen; Jolanda H. Schieving; Emanuela Leonardi; Fiorenza Soli; Alessandra Murgia; Hui Guo; Qiumeng Zhang; Kun Xia; Christina R. Fagerberg; Christoph P. Beier; Martin J. Larsen; Irene Valenzuela; Paula Fernández-Álvarez; Shiyi Xiong; Robert Śmigiel; Vanesa López-González; Lluís Armengol; Manuela Morleo; Angelo Selicorni; Annalaura Torella; Moira Blyth; Nicola S. Cooper; Valerie Wilson; Renske Oegema; Yvan Herenger; Aurore Garde; Ange-Line Bruel; Frederic Tran Mau-Them; Alexis B.R. Maddocks; Jennifer M. Bain; Musadiq A. Bhat; Gregory Costain; Peter Kannu; Ashish Marwaha; Neena L. Champaigne; Michael J. Friez; Ellen B. Richardson; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Yask Gupta; Tze Y. Lim; Simone Sanna-Cherchi; Bruno Lemaitre; Toshiyuki Yamaji; Kentaro Hanada; John E. Burke; Ana Marjia Jakšić; Brian D. McCabe; Paolo De Los Rios; Thorsten Hornemann; Giovanni D’Angelo; Vincenzo A. Gennarino
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Academic Journal
Frédéric Tran Mau-Them; Alexis Overs; Ange-Line Bruel; Romain Duquet; Mylene Thareau; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Arthur Sorlin; Hana Safraou; Sophie Nambot; Julian Delanne; Sebastien Moutton; Caroline Racine; Camille Engel; Melchior De Giraud d’Agay; Daphne Lehalle; Alice Goldenberg; Marjolaine Willems; Christine Coubes; David Genevieve; Alain Verloes; Yline Capri; Laurence Perrin; Marie-Line Jacquemont; Laetitia Lambert; Elodie Lacaze; Julien Thevenon; Nadine Hana; Julien Van-Gils; Charlotte Dubucs; Varoona Bizaoui; Marion Gerard-Blanluet; James Lespinasse; Sandra Mercier; Anne-Marie Guerrot; Isabelle Maystadt; Emilie Tisserant; Laurence Faivre; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Frédéric Tran Mau-Them; Julian Delanne; Anne-Sophie Denommé-Pichon; Hana Safraou; Ange-Line Bruel; Antonio Vitobello; Aurore Garde; Sophie Nambot; Nicolas Bourgon; Caroline Racine; Arthur Sorlin; Sébastien Moutton; Nathalie Marle; Thierry Rousseau; Paul Sagot; Emmanuel Simon; Catherine Vincent-Delorme; Odile Boute; Cindy Colson; Florence Petit; Marine Legendre; Sophie Naudion; Caroline Rooryck; Clément Prouteau; Estelle Colin; Agnès Guichet; Alban Ziegler; Dominique Bonneau; Godelieve Morel; Mélanie Fradin; Alinoé Lavillaureix; Chloé Quelin; Laurent Pasquier; Sylvie Odent; Gabriella Vera; Alice Goldenberg; Anne-Marie Guerrot; Anne-Claire Brehin; Audrey Putoux; Jocelyne Attia; Carine Abel; Patricia Blanchet; Constance F. Wells; Caroline Deiller; Mathilde Nizon; Sandra Mercier; Marie Vincent; Bertrand Isidor; Jeanne Amiel; Rodolphe Dard; Manon Godin; Nicolas Gruchy; Médéric Jeanne; Elise Schaeffer; Pierre-Yves Maillard; Frédérique Payet; Marie-Line Jacquemont; Christine Francannet; Sabine Sigaudy; Marine Bergot; Emilie Tisserant; Marie-Laure Ascencio; Christine Binquet; Yannis Duffourd; Christophe Philippe; Laurence Faivre; Christel Thauvin-Robinet
Frontiers in Genetics, Vol 14 (2023)
Academic Journal
Estelle Colin; Yannis Duffourd; Martin Chevarin; Emilie Tisserant; Simon Verdez; Julien Paccaud; Ange-Line Bruel; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Julien Thevenon; Hana Safraou; Thomas Besnard; Alice Goldenberg; Benjamin Cogné; Bertrand Isidor; Julian Delanne; Arthur Sorlin; Sébastien Moutton; Mélanie Fradin; Christèle Dubourg; Magali Gorce; Dominique Bonneau; Salima El Chehadeh; François-Guillaume Debray; Martine Doco-Fenzy; Kevin Uguen; Nicolas Chatron; Bernard Aral; Nathalie Marle; Paul Kuentz; Anne Boland; Robert Olaso; Jean-François Deleuze; Damien Sanlaville; Patrick Callier; Christophe Philippe; Christel Thauvin-Robinet; Laurence Faivre; Antonio Vitobello
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Academic Journal
Philip Boone; Kamli Faour; Kiana Mohajeri; John Lemanski; Bimal Jana; Jack Fu; Jennifer Kerkhof; Haley McConkey; Ryan Collins; Diane Lucente; Celine de Esch; Mariana Moysés-Oliveira; Alexander Nuttle; Aloysius Domingo; Serkan Erdin; Maris Hanley; Amy Watt; Eric Surette; Gloria Lima; Laura Smith; Monica Salani; Rachita Yadav; Ricardo Harripaul; Kathryn O’Keefe; Nicholas Burt; Matthew Larson; Riya Bhavsar; Benjamin Currall; Susan Sell; Roger Ladda; LaDonna Immken; Catherine Buchanan; Bo Yuan; Sally Lynch; Christian Gilissen; Rolph Pfundt; Charlotte Ockeloen; Tjitske Kleefstra; Els Vanhoutte; Margje Sinnema; Sander Stegmann; Servi Stevens; Maria Iascone; Silvia Maitz; Benjamin Cogne; Cedric Le Caignec; Marie Vincent; Mathilde Nizon; Alison Male; Pankaj Agrawal; Michelle Thompson; Pernille Torring; Charlotte Brasch-Andersen; Laurence Faivre; Ange-Line Bruel; Bertrand Isidor; Christophe Philippe; Manuela Morleo; Monica Wojcik; Casie Genetti; Siddharth Srivastava; Sonia Ballal; Sophia Schließke; Rami Abou Jamra; Andree Delahaye; Lydia von Wintzingerode; Viktoria Bothe; Marine Houlier; Timothy Stout; Gaber Bergant; Borut Peterlin; Oana Moldovan; Núria Martínez-Gil; Emanuela Argilli; Elliott Sherr; Tamar Harel; Hallel Rosenberg-Fogler; Jill Rosenfeld; Ingrid Wentzensen; Dominik Westphal; Korbinian Riedhammer; Laura Orec; James Gusella; Bekim Sadikovic; Derek Tai; Michael Talkowski
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
Academic Journal
Ilaria Parenti; Elsa Leitão; Alma Kuechler; Laurent Villard; Cyril Goizet; Cécile Courdier; Allan Bayat; Alessandra Rossi; Sophie Julia; Ange-Line Bruel; Frédéric Tran Mau-Them; Sophie Nambot; Daphné Lehalle; Marjolaine Willems; James Lespinasse; Jamal Ghoumid; Roseline Caumes; Thomas Smol; Salima El Chehadeh; Elise Schaefer; Marie-Thérèse Abi-Warde; Boris Keren; Alexandra Afenjar; Anne-Claude Tabet; Jonathan Levy; Anna Maruani; Ángel Aledo-Serrano; Waltraud Garming; Clara Milleret-Pignot; Anna Chassevent; Marije Koopmans; Nienke E. Verbeek; Richard Person; Rebecca Belles; Gary Bellus; Bonnie A. Salbert; Frank J. Kaiser; Laure Mazzola; Philippe Convers; Laurine Perrin; Amélie Piton; Gert Wiegand; Andrea Accogli; Francesco Brancati; Fabio Benfenati; Nicolas Chatron; David Lewis-Smith; Rhys H. Thomas; Federico Zara; Pasquale Striano; Gaetan Lesca; Christel Depienne
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Estelle Colin; Yannis Duffourd; Emilie Tisserant; Raissa Relator; Ange-Line Bruel; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Julian Delanne; Nolwenn Jean-Marçais; Boris Keren; Bertrand Isidor; Marie Vincent; Cyril Mignot; Delphine Heron; Alexandra Afenjar; Solveig Heide; Anne Faudet; Perrine Charles; Sylvie Odent; Yvan Herenger; Arthur Sorlin; Sébastien Moutton; Jennifer Kerkhof; Haley McConkey; Martin Chevarin; Charlotte Poë; Victor Couturier; Valentin Bourgeois; Patrick Callier; Anne Boland; Robert Olaso; Christophe Philippe; Bekim Sadikovic; Christel Thauvin-Robinet; Laurence Faivre; Jean-François Deleuze; Antonio Vitobello
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Academic Journal
Natacha Sloboda; Laetitia Lambert; Viorica Ciorna; Ange‐Line Bruel; Frédéric Tran Mau‐Them; Vladimir Gomola; Jean‐Louis Lemelle; Olivier Klein; Marie‐Christine Camoin‐Schweitzer; Marie Magnavacca; Carole Legagneur; Marie‐Laure Ezsto; Céline Bonnet; Christophe Philippe; Bruno Leheup
Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
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