학술논문
'학술논문'
에서 검색결과 426건 | 목록
1~10
Academic Journal
Le, TL; Galmiche, L; Levy, J; Suwannarat, P; Hellebrekers, DM; Morarach, K; Boismoreau, F; Theunissen, TEJ; Lefebvre, M; Pelet, A; Martinovic, J; Gelot, A; Guimiot, F; Calleroz, A; Gitiaux, C; Hully, M; Goulet, O; Chardot, C; Drunat, S; Capri, Y; Bole-Feysot, C; Nitschke, P; Whalen, S; Mouthon, L; Babcock, HE; Hofstra, R; de Coo, IFM; Tabet, AC; Molina, TJ; Keren, B; Brooks, A; Smeets, HJM; Marklund, U; Gordon, CT; Lyonnet, S; Amiel, J; Bondurand, N
The Journal of clinical investigation. 131(6)
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
Vial Y; Université Paris Cité, Institut de Recherche Saint-Louis, Inserm UMR_S1131, F-75010, Paris, France.; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Laboratoire de Génétique Moléculaire, F-75019, Paris, France.; Nardelli J; Université Paris Cité, NeuroDiderot, Inserm, F-75019, Paris, France.; Bonnard AA; Université Paris Cité, Institut de Recherche Saint-Louis, Inserm UMR_S1131, F-75010, Paris, France.; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Laboratoire de Génétique Moléculaire, F-75019, Paris, France.; Rousselot J; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Laboratoire de Génétique Moléculaire, F-75019, Paris, France.; Souyri M; Université Paris Cité, Institut de Recherche Saint-Louis, Inserm UMR_S1131, F-75010, Paris, France.; Gressens P; Université Paris Cité, NeuroDiderot, Inserm, F-75019, Paris, France.; Cavé H; Université Paris Cité, Institut de Recherche Saint-Louis, Inserm UMR_S1131, F-75010, Paris, France.; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Laboratoire de Génétique Moléculaire, F-75019, Paris, France.; Drunat S; Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Laboratoire de Génétique Moléculaire, F-75019, Paris, France. severine.drunat@aphp.fr.; Université Paris Cité, NeuroDiderot, Inserm, F-75019, Paris, France. severine.drunat@aphp.fr.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 100963049 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-3178 (Electronic) Linking ISSN: 1469221X NLM ISO Abbreviation: EMBO Rep Subsets: MEDLINE
Academic Journal
Arfeuille C; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris.; Vial Y; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris.; Cadenet M; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris.; Caye-Eude A; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris.; Fenneteau O; Service d'Hématologie Biologique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Neven Q; Service d'Onco-Hématologie pédiatrique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Bonnard AA; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris.; Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Carpentieri G; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Capri Y; Département de Génétique, Unité de Génétique clinique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Girardi K; Department of Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Pedace L; Department of Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Macchiaiolo M; Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Boudhar K; Service de réanimation néonatale, Hôpital Central de l'Armée, Alger, Algérie.; Khaled MB; University of Tunis El Manar, Faculty of Medicine of Tunis, 1007, Tunisia. Pediatric Immuno- Hematology Unit, Bone Marrow Transplantation Center Tunis, Tunis, Tunisia.; Chahla WA; Service d'Hématologie Pédiatrique, Centre Hospitalier Universitaire de Lille, Lille.; Lutun A; Service d'Hématologie Pédiatrique, Centre Hospitalier Universitaire d'Amiens, Amiens.; Fahd M; Service d'Onco-Hématologie pédiatrique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Drunat S; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome.; Dalle JH; Service d'Onco-Hématologie pédiatrique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Strullu M; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris, France; Service d'Onco-Hématologie pédiatrique, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris.; Locatelli F; Department of Hematology/Oncology and Cell and Gene Therapy, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy; Department of Pediatrics, Catholic University of the Sacred Hearth, 00168 Rome.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome.; Cavé H; Département de Génétique, Unité de Génétique Moléculaire, Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France; INSERM UMR_S1131, Institut de Recherche Saint-Louis, Université Paris-Cité, Paris. helene.cave@aphp.fr.
Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE
Academic Journal
Yaldiz, B.; Kucuk, E.; Hampstead, J.; Hofste, T.; Corominas Galbany, J.; Rinne, T.; Hoischen, A.; Nelen, M.; Gilissen, C.; Pfundt, R.; Yntema, H.G.; Riess, O.; Haack, T.B.; Graessner, H.; Zurek, B.; Ellwanger, K.; Ossowski, S.; Demidov, G.; Sturm, M.; Schulze-Hentrich, J.M.; Schüle, R.; Xu, J.; Kessler, C.; Wayand, M.; Synofzik, M.; Wilke, C.; Traschütz, A.; Schöls, L.; Hengel, H.; Lerche, H.; Kegele, J.; Heutink, P.; Brunner, H.; Scheffer, H.; Hoogerbrugge, N.; Hoischen, A.; Hoen, P.A.C.; Vissers, L.E.L.M.; Gilissen, C.; Steyaert, W.; Sablauskas, K.; de Voer, R.M.; Kamsteeg, E.-J.; van de Warrenburg, B.; van Os, N.; te Paske, I.; Janssen, E.; de Boer, E.; Steehouwer, M.; Yaldiz, B.; Kleefstra, T.; Brookes, A.J.; Veal, C.; Gibson, S.; Maddi, V.; Mehtarizadeh, M.; Riaz, U.; Warren, G.; Dizjikan, F.Y.; Shorter, T.; Töpf, A.; Straub, V.; Bettolo, C.M.; Manera, J.D.; Hambleton, S.; Engelhardt, K.; Clayton-Smith, J.; Banka, S.; Alexander, E.; Jackson, A.; Faivre, L.; Thauvin, C.; Vitobello, A.; Denommé-Pichon, A.-S.; Duffourd, Y.; Bruel, A.-L.; Peyron, C.; Pélissier, A.; Beltran, S.; Gut, I.G.; Laurie, S.; Piscia, D.; Matalonga, L.; Papakonstantinou, A.; Bullich, G.; Corvo, A.; Fernandez-Callejo, M.; Hernández, C.; Picó, D.; Paramonov, I.; Lochmüller, H.; Gumus, G.; Bros-Facer, V.; Rath, A.; Hanauer, M.; Lagorce, D.; Hongnat, O.; Chahdil, M.; Lebreton, E.; Stevanin, G.; Durr, A.; Davoine, C.-S.; Guillot-Noel, L.; Heinzmann, A.; Coarelli, G.; Bonne, G.; Evangelista, T.; Allamand, V.; Nelson, I.; Yaou, R.B.; Metay, C.; Eymard, B.; Cohen, E.; Atalaia, A.; Stojkovic, T.; Macek, M.; Turnovec, M.; Thomasová, D.; Kremliková, R.P.; Franková, V.; Havlovicová, M.; Lišková, P.; Doležalová, P.; Parkinson, H.; Keane, T.; Freeberg, M.; Thomas, C.; Spalding, D.; Robinson, P.; Danis, D.; Robert, G.; Costa, A.; Patch, C.; Hanna, M.; Houlden, H.; Reilly, M.; Vandrovcova, J.; Efthymiou, S.; Morsy, H.; Cali, E.; Magrinelli, F.; Sisodiya, S.M.; Rohrer, J.; Muntoni, F.; Zaharieva, I.; Sarkozy, A.; Timmerman, V.; Baets, J.; de Vries, G.; De Winter, J.; Beijer, D.; de Jonghe, P.; Van de Vondel, L.; De Ridder, W.; Weckhuysen, S.; Nigro, V.; Mutarelli, M.; Morleo, M.; Pinelli, M.; Varavallo, A.; Banfi, S.; Torella, A.; Musacchia, F.; Piluso, G.; Ferlini, A.; Selvatici, R.; Gualandi, F.; Bigoni, S.; Rossi, R.; Neri, M.; Aretz, S.; Spier, I.; Sommer, A.K.; Peters, S.; Oliveira, C.; Pelaez, J.G.; Matos, A.R.; José, C.S.; Ferreira, M.; Gullo, I.; Fernandes, S.; Garrido, L.; Ferreira, P.; Carneiro, F.; Swertz, M.A.; Johansson, L.; van der Velde, J.K.; van der Vries, G.; Neerincx, P.B.; Ruvolo, D.; Abbott, K.M.; Frederikse, W.S.K.; Zonneveld-Huijssoon, E.; Roelofs-Prins, D.; van Gijn, M.; Köhler, S.; Metcalfe, A.; Verloes, A.; Drunat, S.; Heron, D.; Mignot, C.; Keren, B.; de Sainte Agathe, J.-M.; Rooryck, C.; Lacombe, D.; Trimouille, A.; De la Paz, M.P.; Sánchez, E.B.; Martín, E.L.; Delgado, B.M.; de la Rosa, F.J.A.G.; Ciolfi, A.; Dallapiccola, B.; Pizzi, S.; Radio, F.C.; Tartaglia, M.; Renieri, A.; Furini, S.; Fallerini, C.; Benetti, E.; Balicza, P.; Molnar, M.J.; Maver, A.; Peterlin, B.; Münchau, A.; Lohmann, K.; Herzog, R.; Pauly, M.; Macaya, A.; Cazurro-Gutiérrez, A.; Pérez-Dueñas, B.; Munell, F.; Jarava, C.F.; Masó, L.B.; Marcé-Grau, A.; Colobran, R.; Osorio, A.N.; de Benito, D.N.; Lochmüller, H.; Thompson, R.; Polavarapu, K.; Grimbacher, B.; Beeson, D.; Cossins, J.; Hackman, P.; Johari, M.; Savarese, M.; Udd, B.; Horvath, R.; Chinnery, P.F.; Ratnaike, T.; Gao, F.; Schon, K.; Capella, G.; Valle, L.; Holinski-Feder, E.; Laner, A.; Steinke-Lange, V.; Schröck, E.; Rump, A.; Başak, A.N.; Hemelsoet, D.; Dermaut, B.; Schuermans, N.; Poppe, B.; Verdin, H.; Mei, D.; Vetro, A.; Balestrini, S.; Guerrini, R.; Claeys, K.; Santen, G.W.E.; Bijlsma, E.K.; Hoffer, M.J.V.; Ruivenkamp, C.A.L.; Boztug, K.; Haimel, M.; Maystadt, I.; Cordts, I.; Deschauer, M.; Zaganas, I.; Kokosali, E.; Lambros, M.; Evangeliou, A.; Spilioti, M.; Kapaki, E.; Bourbouli, M.; Striano, P.; Zara, F.; Riva, A.; Iacomino, M.; Uva, P.; Scala, M.; Scudieri, P.; Cilio, M.-R.; Carpancea, E.; Depondt, C.; Lederer, D.; Sznajer, Y.; Duerinckx, S.; Mary, S.; Depienne, C.; Roos, A.; May, P.
In: Human Genomics . (Human Genomics, December 2023, 17(1))
Academic Journal
Tabet, Anne-Claude; Rolland, Thomas; Ducloy, Marie; Lévy, Jonathan; Buratti, Julien; Mathieu, Alexandre; Haye, Damien; Perrin, Laurence; Dupont, Céline; Passemard, Sandrine; Capri, Yline; Verloes, Alain; Drunat, Séverine; Keren, Boris; Mignot, Cyril; Marey, Isabelle; Jacquette, Aurélia; Whalen, Sandra; Pipiras, Eva; Benzacken, Brigitte; Chantot-Bastaraud, Sandra; Afenjar, Alexandra; Héron, Delphine; Le Caignec, Cédric; Beneteau, Claire; Pichon, Olivier; Isidor, Bertrand; David, Albert; El Khattabi, Laila; Kemeny, Stephan; Gouas, Laetitia; Vago, Philippe; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Missirian, Chantal; Philip, Nicole; Sanlaville, Damien; Edery, Patrick; Satre, Véronique; Coutton, Charles; Devillard, Françoise; Dieterich, Klaus; Vuillaume, Marie-Laure; Rooryck, Caroline; Lacombe, Didier; Pinson, Lucile; Gatinois, Vincent; Puechberty, Jacques; Chiesa, Jean; Lespinasse, James; Dubourg, Christèle; Quelin, Chloé; Fradin, Mélanie; Journel, Hubert; Toutain, Annick; Martin, Dominique; Benmansour, Abdelamdjid; Leblond, Claire S.; Toro, Roberto; Amsellem, Frédérique; Delorme, Richard; Bourgeron, Thomas
npj Genomic Medicine. 4(1)
Academic Journal
Frost FG; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Morimoto M; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Sharma P; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Ruaud L; APHP.Nord, Robert Debré University Hospital, Department of Genetics, Paris, France; Université Paris Cité, Inserm UMR 1141, NeuroDiderot, 75019 Paris, France.; Belnap N; Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, USA.; Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, the Netherlands; United for Metabolic Diseases, Amsterdam, the Netherlands.; Narayanan V; Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, USA.; Rangasamy S; Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, USA.; Huentelman M; Center for Rare Childhood Disorders, The Translational Genomics Research Institute, Phoenix, AZ, USA.; Emrick LT; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Sato-Shirai I; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan; Department of Pediatrics, Shimada Ryoiku Medical Center Hachioji for Challenged Children, Tokyo, Japan.; Kumada S; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, the Netherlands.; Steinbach PJ; Bioinformatics and Computational Biosciences Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; Huang Y; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Pusey BN; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Passemard S; Université Paris Cité, Inserm UMR 1141, NeuroDiderot, 75019 Paris, France; Service de Neurologie Pédiatrique, DMU INOV-RDB, APHP, Hôpital Robert Debré, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Drunat S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France; INSERM UMR1141, Neurodiderot, University of Paris, Paris, France.; Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes, France; Inserm, CNRS, University Nantes, l'institut du thorax, Nantes, France.; Guet A; APHP.Nord, Louis Mourier Hospital, Pediatrics Department, Paris, France.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Digilio MC; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Murphy JL; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Lupski JR; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Vezina G; Department of Diagnostic Radiology and Imaging, Children's National Hospital, Washington, DC, USA.; Macnamara EF; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Acosta MT; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Malicdan MCV; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: maychristine.malicdan@nih.gov.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Piette, C; Suciu, S; Clappier, E; Bertrand, Y; Drunat, S; Girard, S; Yakouben, K; Plat, G; Dastugue, N; Mazingue, F; Grardel, N; van Roy, N; Uyttebroeck, A; Costa, V; Minckes, O; Sirvent, N; Simon, P; Lutz, P; Ferster, A; Pluchart, C; Poirée, M; Freycon, C; Dresse, M-F; Millot, F; Chantrain, C; van der Werff tenBosch, J; Norga, K; Gilotay, C; Rohrlich, P-S; Benoit, Y; Cavé, H
Leukemia. Jan 01, 2018 32(1):244-248
Academic Journal
Trimouille, A.; Lasseaux, E.; Barat, P.; Deiller, C.; Drunat, S.; Rooryck, C.; Arveiler, B.; Lacombe, D.
Clinical Genetics. Feb 01, 2018 93(2):374-377
Academic Journal
Vezain M; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Thauvin-Robinet C; INSERM UMR1231 GAD-Génétique des Anomalies du Développement, Bourgogne Franche-Comté University, F-21000 , Dijon, France.; Genetics Center, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, F-21000, Dijon, France.; Vial Y; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Genetics Department, AP-HP, Robert-Debré University Hospital, 48 boulevard Sérurier, 75019 , Paris, France.; Coutant S; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Drunat S; INSERM UMR 1141, PROTECT, Paris University, F-75019, Paris, France.; Genetics Department, AP-HP, Robert-Debré University Hospital, F-75019, Paris, France.; Urtizberea JA; Myology Institute, AP-HP Pitié-Salpêtrière University Hospital, F-75013, Paris, France.; Rolland A; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Pediatrics Department, Valence Hospital, 179 boulevard du Maréchal Juin, 26000, Valence, France.; Jacquin-Piques A; Department of Neurology, Clinical Neurophysiology, Competence Center of Neuromuscular Diseases, Dijon-Burgundy University Hospital, F-21000, Dijon, France.; Fehrenbach S; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Nicolas G; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Lecoquierre F; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France.; Saugier-Veber P; INSERM UMR1245, UNIROUEN, Normandie Univ, F-76000, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.; Department of Genetics, FHU G4 Génomique, Rouen University Hospital, F-76000, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.; Laboratoire de Génétique Moléculaire, UFR-Santé, 22 boulevard Gambetta, 76183, Rouen, France. Pascale.Saugier-Veber@chu-rouen.fr.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
검색 결과 제한하기
제한된 항목
[검색어] Drunat, S.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어