학술논문
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'학술논문'
에서 검색결과 2,744건 | 목록
1~20
Academic Journal
Yordi-Michaël Bouhatous; Cecilie Bredrup; Agnes Maurer; Liubinka Mirakovska; Alison Foster; Kenjiro Kosaki; Céline Jost; Jean-Baptiste Demoulin; Maxime Luu; Pierre Vabres; Jean-Emmanuel Kurtz; Elise Schaefer; Anne Guimier; Valerie Cormier-Daire; Derek Lim; Sarah Thompson; Lorin Olson; Hae Ryong Kwon; Cristina Aguirre-Rodriguez; Unai Hernandez-Dorronsoro; Itziar Martinez-Soroa; Helena Iznardo; José-Manuel Mascaró; Eulalia Baselga; Silvia Kalantari; Alessandro Mussa; Andrea Gazzin; Diana Carli; Ingrid Svinvik; Hatice Mutlu-Albayrak; Sarah Bluefeather; Yuri Zarate; Toshiki Takenouchi; Thirona Naicker; Antoinette Chateau; Ashmika Gokhul; Anele Dube-Pule; Muzhirah Haniffa; Winnie Ong Peitee; Ann Nordgren; Maud Carpentier; Christine Binquet; Anne-Sophie Briffaut; Laurence Bal; Dinel Pond; Cecilie F Rustad; Marc Bardou; Laurence Faivre
Journal of Medical Genetics. 62:656-663
Academic Journal
Yordi-Michaël Bouhatous; Pauline Arnaud; Guillaume Jondeau; Dominique Bonneau; Frédéric Rouleau; Ghislaine Plessis; Aline Vincent; Fabien Labombarda; Pascale Maragnes; Julian Delanne; Matthias Muller; Christine Coubes; Charlene Bredy; Laurent Gouya; Sylvie Odent; Adeline Basquin; Sophie Dupuis-Girod; Martine Barthelet; Emmanuelle Ginglinger; Bruno Delobel; Guy Vaksmann; Jean-Luc Alessandri; Louis André Arsac; Edouard Thomas; Sophie Julia; Bertrand Chesneau; Yves Dulac; Bert Callewaert; Bart Loeys; Maxim Vaerle; Leonie A Menke; Maarten Groenink; Lesley Ades; Maria Juliana Ballesta-Martinez; Alan L Shanske; Sigrid Tinschert; Petra Gehle; Christel Thauvin-Robinet; Jean-Christophe Eicher; Sylvie Falcon-Eicher; Catherine Boileau; Christine Binquet; Nadine Hanna; Laurence Faivre
J Med Genet
JOURNAL OF MEDICAL GENETICS
JOURNAL OF MEDICAL GENETICS
Academic Journal
Salima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus; Magalie Barth; Estelle Colin; Yosra Halleb; Clara Houdayer; Clément Prouteau; Marine Tessarech; Alban Ziegler; Chloé Angelini; Marie-Pierre Baudier; Meryem Britel; Noémie Bronnec; Clémence Deiber; Virginie Dorian; Juliette Gaudry; Cyril Goizet; Nawel Hairech; Ouidad Hasnaoui; Manon Laurent; Marine Legendre; Sophie Naudion; Ndeye-Fatou Ngom; Caroline Rooryck Thambo; Julien Van Gils; Cécile Zordan; Myriam Borel; Anne-Sophie Briffaut; Charley Robert Viard; Delphine Bacq-Daian; Celine Besse; Bertrand Fin; Vincent Meyer; Marie-Laure Moutet; Robert Olaso; Florian Sandron; Violette Turon; Celine Bernard; Marie Bournez; Ange-Line Bruel; Eleonore Viora-Dupont; Julian Delanne; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Romain Duquet; Aurelie Espitalier; Clemence Fauconnier-Fatus; Sophie Nambot; Aurore Petiot; Victor Pillay; Charlotte Poe; Melodie Soto; Christel Thauvin; Mylene Tharreau; Antonio Vitobello; Marjolaine Gauthier; Marie-Ange Nguyen Morel; Frederique Nugues; Antoine Wyrebski; Klaus Dieterich; Pauline Le Tanno; Laurence Bellengier; Odile Boute; Cindy Colson; Anne Dieux; Jamal Ghoumid; Luisa Marsili; Florence Petit; Coralie Rubeck; Clemence Vanlerberghe; Catherine Vincent-Delorme; Christelle Rougeot-Jung; Aurore Curie; Vincent des Portes; Sylvie Goutte; Damien Haye; Audrey Labalme; Pauline Monin; Marianne Till; Thibaud Armand; Julie Reversat; Françoise Robert; Amelie Berthiot; Marion Colard; Lamia El Amrani-El Idrissi; Tiphaine Francois; Haymanot George; Manel Saidi; Karima Rendja; Iracema Triguel; Claire Bardel; Pierre Antoine Rollat-Farnier; Audrey Putoux; Massimiliano Rossi; Linda Pons; Emilie Consolino; Olga Glazunova; Audrey Mallet; Nicole Philip-Sarles; Florence Riccardi; Valerie Seror; Severine Beltram; Florent Cerret; Laura Crantelle; Mirna Khalil; Patricia Blanchet; Caroline Deiller; Emmanuelle Haquet; Lucile Pinson; Constance Wells; Francis Guillemin; Solene Conrad; Laura Guyon; Sandra Mercier; Mathilde Nizon; Annastasia Voisine; Kahina Abdallah; Jeanne Amiel; Genevieve Baujat; Wiam Bhia; Jean-Paul Bonnefont; Valerie Cormier-Daire; Narimene De Nadai; Valeria Florentino; Kelly Gouvenot; Anne Guimier; Hamza Hadj Abdallah; Jerome Jeannette; Sandrine Marlin; Cecile Masson; Caroline Michot; Lea Peroni; Serge Romana; Alexandra Afenjar; Lydie Burglen; Sandra Whalen; Julien Buratti; Eric Leguern; Anne Faudet; Anna Gerasimenko; Caroline Moukossi-Mouelle; Linda Mouthon; Anne-Sophie Pellen; Stephanie Staraci; Daphne Lehalle; Helene Esperou; Soizic Le Mestre; Claire Levy-Marchal; Wilfrid Carre; Marie De Tayrac; Christele Dubourg; Chloé Fournier; Linda Akloul; Melanie Fradin; Nolwenn Jean-Marcais; Alinoë Lavillaureix; Godelieve Morel; Laurent Pasquier; Elisabeth Poirel; Audrey Riou; Paul Rollier; Anne-Claire Brehin; Pascal Chambon; Delphine Gonde; Geraldine Joly-Helas; Nadege Calmels; Celine Cuny; Claire Feger; Benjamin Durand; Nathalie Goetz; Pierre-Yves Maillard; Sophie Monduc; Elise Schaefer; Sophie Scheidecker; Jean Muller; Amelie Piton
Genome Med
Academic Journal
Kate Lawrenson; Siddhartha Kar; Karen McCue; Karoline Kuchenbaeker; Kyriaki Michailidou; Jonathan Tyrer; Jonathan Beesley; Susan J. Ramus; Qiyuan Li; Melissa K. Delgado; Janet M. Lee; Kristiina Aittomäki; Irene L. Andrulis; Hoda Anton-Culver; Volker Arndt; Banu K. Arun; Brita Arver; Elisa V. Bandera; Monica Barile; Rosa B. Barkardottir; Daniel Barrowdale; Matthias W. Beckmann; Javier Benitez; Andrew Berchuck; Maria Bisogna; Line Bjorge; Carl Blomqvist; William Blot; Natalia Bogdanova; Anders Bojesen; Stig E. Bojesen; Manjeet K. Bolla; Bernardo Bonanni; Anne-Lise Børresen-Dale; Hiltrud Brauch; Paul Brennan; Hermann Brenner; Fiona Bruinsma; Joan Brunet; Shaik Ahmad Buhari; Barbara Burwinkel; Ralf Butzow; Saundra S. Buys; Qiuyin Cai; Trinidad Caldes; Ian Campbell; Rikki Cannioto; Jenny Chang-Claude; Jocelyne Chiquette; Ji-Yeob Choi; Kathleen B. M. Claes; Marie-Agnès Collonge-Rame; Alexandre Damette; Emmanuelle Barouk-Simonet; Françoise Bonnet; Virginie Bubien; Nicolas Sevenet; Michel Longy; Pascaline Berthet; Dominique Vaur; Laurent Castera; Sandra Fert Ferrer; Yves-Jean Bignon; Nancy Uhrhammer; Fanny Coron; Laurence Faivre; Amandine Baurand; Caroline Jacquot; Geoffrey Bertolone; Sarab Lizard; Dominique Leroux; Hélène Dreyfus; Christine Rebischung; Magalie Peysselon; Jean-Philippe Peyrat; Joëlle Fournier; Françoise Révillion; Claude Adenis; Laurence Vénat-Bouvet; Mélanie Léone; Nadia Boutry-Kryza; Alain Calender; Sophie Giraud; Carole Verny-Pierre; Christine Lasset; Valérie Bonadona; Laure Barjhoux; Hagay Sobol; Violaine Bourdon; Tetsuro Noguchi; Audrey Remenieras; Isabelle Coupier; Pascal Pujol; Johanna Sokolowska; Myriam Bronner; Capucine Delnatte; Stéphane Bézieau; Véronique Mari; Marion Gauthier-Villars; Bruno Buecher; Etienne Rouleau; Lisa Golmard; Virginie Moncoutier; Muriel Belotti; Antoine de Pauw; Camille Elan; Emmanuelle Fourme; Anne-Marie Birot; Claire Saule; Maïté Laurent; Claude Houdayer; Fabienne Lesueur; Noura Mebirouk; Florence Coulet; Chrystelle Colas; Florent Soubrier; Mathilde Warcoin; Fabienne Prieur; Marine Lebrun; Caroline Kientz; Danièle Muller; Jean-Pierre Fricker; Christine Toulas; Rosine Guimbaud; Laurence Gladieff; Viviane Feillel; Isabelle Mortemousque; Brigitte Bressac-de-Paillerets; Olivier Caron; Marine Guillaud-Bataille; Linda S. Cook; Angela Cox; Daniel W. Cramer; Simon S. Cross; Cezary Cybulski; Kamila Czene; Mary B. Daly; Francesca Damiola; Agnieszka Dansonka-Mieszkowska; Hatef Darabi; Joe Dennis; Peter Devilee; Orland Diez; Jennifer A. Doherty; Susan M. Domchek; Cecilia M. Dorfling; Thilo Dörk; Martine Dumont; Hans Ehrencrona; Bent Ejlertsen; Steve Ellis; Helen Gregory; Zosia Miedzybrodzka; Patrick J. Morrison; Alan Donaldson; Mark T. Rogers; M. John Kennedy; Mary E. Porteous; Angela Brady; Julian Barwell; Claire Foo; Fiona Lalloo; Lucy E. Side; Jacqueline Eason; Alex Henderson; Lisa Walker; Jackie Cook; Katie Snape; Alex Murray; Emma McCann; Christoph Engel; Eunjung Lee; D. Gareth Evans; Peter A. Fasching; Lidia Feliubadalo; Jonine Figueroa; Dieter Flesch-Janys; Olivia Fletcher; Henrik Flyger; Lenka Foretova; Florentia Fostira; William D. Foulkes; Brooke L. Fridley; Eitan Friedman; Debra Frost; Gaetana Gambino; Patricia A. Ganz; Judy Garber; Montserrat García-Closas; Aleksandra Gentry-Maharaj; Maya Ghoussaini; Graham G. Giles; Rosalind Glasspool; Andrew K. Godwin; Mark S. Goldberg; David E. Goldgar; Anna González-Neira; Ellen L. Goode; Marc T. Goodman; Mark H. Greene; Jacek Gronwald; Pascal Guénel; Christopher A. Haiman; Per Hall; Emily Hallberg; Ute Hamann; Thomas V. O. Hansen; Patricia A. Harrington; Mikael Hartman; Norhashimah Hassan; Sue Healey; M. A. Rookus; F. E. van Leeuwen; L. E. van der Kolk; M. K. Schmidt; N. S. Russell; J. L. de Lange; R. Wijnands; J. M. Collée; M. J. Hooning; C. Seynaeve; C. H. M. van Deurzen; I. M. Obdeijn; C. J. van Asperen; R. A. E. M. Tollenaar; T. C. T. E. F. van Cronenburg; C. M. Kets; M. G. E. M. Ausems; C. C. van der Pol; T. A. M. van Os; Q. Waisfisz; H. E. J. Meijers-Heijboer; E. B. Gómez-Garcia; J. C. Oosterwijk; M. J. Mourits; G. H. de Bock; H. F. Vasen; S. Siesling; J. Verloop; L. I. H. Overbeek; Florian Heitz; Josef Herzog; Estrid Høgdall; Claus K. Høgdall; Frans B. L. Hogervorst; Antoinette Hollestelle; John L. Hopper; Peter J. Hulick; Tomasz Huzarski; Evgeny N. Imyanitov; Stephen Fox; Judy Kirk; Geoff Lindeman; Melanie Price; David Bowtell; Anna deFazio; Penny Webb; Claudine Isaacs; Hidemi Ito; Anna Jakubowska; Ramunas Janavicius; Allan Jensen; Esther M. John; Nichola Johnson; Maria Kabisch; Daehee Kang; Miroslav Kapuscinski; Beth Y. Karlan; Sofia Khan; Lambertus A. Kiemeney; Susanne Kruger Kjaer; Julia A. Knight; Irene Konstantopoulou; Veli-Matti Kosma; Vessela Kristensen; Jolanta Kupryjanczyk; Ava Kwong; Miguel de la Hoya; Yael Laitman; Diether Lambrechts; Nhu Le; Kim De Leeneer; Jenny Lester; Douglas A. Levine; Jingmei Li; Annika Lindblom; Jirong Long; Artitaya Lophatananon; Jennifer T. Loud; Karen Lu; Jan Lubinski; Arto Mannermaa; Siranoush Manoukian; Loic Le Marchand; Sara Margolin; Frederik Marme; Leon F. A. G. Massuger; Keitaro Matsuo; Sylvie Mazoyer; Lesley McGuffog; Catriona McLean; Iain McNeish; Alfons Meindl; Usha Menon; Arjen R. Mensenkamp; Roger L. Milne; Marco Montagna; Kirsten B. Moysich; Kenneth Muir; Anna Marie Mulligan; Katherine L. Nathanson; Roberta B. Ness; Susan L. Neuhausen; Heli Nevanlinna; Silje Nord; Robert L. Nussbaum; Kunle Odunsi; Kenneth Offit; Edith Olah; Olufunmilayo I. Olopade; Janet E. Olson; Curtis Olswold; David O’Malley; Irene Orlow; Nick Orr; Ana Osorio; Sue Kyung Park; Celeste L. Pearce; Tanja Pejovic; Paolo Peterlongo; Georg Pfeiler; Catherine M. Phelan; Elizabeth M. Poole; Katri Pylkäs; Paolo Radice; Johanna Rantala; Muhammad Usman Rashid; Gad Rennert; Valerie Rhenius; Kerstin Rhiem; Harvey A. Risch; Gus Rodriguez; Mary Anne Rossing; Anja Rudolph; Helga B. Salvesen; Suleeporn Sangrajrang; Elinor J. Sawyer; Joellen M. Schildkraut; Marjanka K. Schmidt; Rita K. Schmutzler; Thomas A. 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Nature Communications, Vol 17, Iss 1 (2026)
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects
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Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmuller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Shimon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
Brain.
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort
Academic Journal
Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Sophie Nambot; Estelle Colin; Marie Bournez; Clémence Fauconnier-Fatus; Caroline Racine; Clément Simao De Souza; Céline Bernard; Agnès Maurer; Aurélie Espitalier; Christine Binquet; Marion Bouctot; Marie-Laure Humbert; Anne-Sophie Briffaut; Véronique Darmency; Patricia Plumet; Audrey Cotinaud-Ricou; Noémie Relin; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Frederic Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Antonio Vitobello; Christophe Philippe; Yannis Duffourd; Ange-Line Bruel; Christel Thauvin-Robinet; Laurence Faivre
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Academic Journal
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British Journal of Dermatology.
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Clinical Genetics. 101:267-269
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Nancy Vegas; Marlène Rio; Pauline Adnot; Véronique Soupre; Florence Petit; Jamal Ghoumid; Annick Toutain; Klaus Dieterich; Isabelle Marey; Brigitte Gilbert-Dussardier; Gwenaël Le Guyader; Christine Francannet; Elise Schaefer; Laurence Perrin; Mathilde Nizon; Claire Beneteau; David Genevieve; Marjolaine Willems; Laurence Faivre; Marianne Grimaldi; Judith Melki; Radka Stoeva; Audrey Putoux; Linda Pons; Karelle Benistan; Jeanne Amiel; Véronique Abadie
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-14 (2025)
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
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