학술논문
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'학술논문'
에서 검색결과 340건 | 목록
1~20
Academic Journal
Schoen, Michael; Lapunzina, Pablo; Mattina, Teresa; Gunnarsson, Cecilia, 1970; Hadzsiev, Kinga; Verpelli, Chiara; Bourgeron, Thomas; Jesse, Sarah; Van Ravenswaaij-Arts, Conny M. A.; the European Phelan-McDermid syndrome consortium; Hennekam, Raoul C.
European Journal of Medical Genetics. 66(7)
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M. ; Levy, Michael A. ; Kerkhof, Jennifer ; Bhai, Pratibha ; McConkey, Haley ; Jenkins, Zandra A. ; Williams, Ella M. ; Halliday, Benjamin J. ; Huisman, Sylvia A. ; Lauffer, Peter ; de Waard, Vivian ; Witteveen, Laura ; Banka, Siddharth ; Brady, Angela F. ; Hurst, Anna C.E. ; Kaiser, Frank J. ; Lacombe, Didier ; Martinez-Monseny, Antonio F. ; Fergelot, Patricia ; Monteiro, Fabíola P. ; Parenti, Ilaria ; Santos-Simarro, Fernando ; Simpson, Brittany N. ; Alders, Mariëlle ; Robertson, Stephen P. ; Sadikovic, Bekim ; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Rodriguez-Palmero A.; Boerrigter M. M.; Gomez-Andres D.; Aldinger K. A.; Marcos-Alcalde I.; Popp B.; Everman D. B.; Lovgren A. K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A. -M.; Bjerregaard V. A.; Bruel A. -L.; Challman T. D.; Cogne B.; Coubes C.; de Man S. A.; Denomme-Pichon A. -S.; Dye T. J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T. B.; Haldeman-Englert C. R.; Haukanes B. I.; Hoyer J.; Hurst A. C. E.; Isidor B.; Soller M. J.; Kushary S.; Kvarnung M.; Landau Y. E.; Leppig K. A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B. A.; Moghadasi S.; Morton J. E.; Moutton S.; Muller A. J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M. J.; Ruivenkamp C. A. L.; Sarrazin E.; Savatt J. M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J. T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F. T.; van Bon B.; van de Burgt I.; van de Laar I. M. B. H.; van Drie E.; van Haelst M. M.; van Ravenswaaij-Arts C. M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C. E.; de Vries B. B. A.; Dobyns W. B.; Reiter S. F.; Gomez-Puertas P.; Pujol A.; Tumer Z.
Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter,M M , Gómez-Andrés, D, Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M , Bjerregaard, V A, Bruel, A L, Challman, T D, Cogné, B, Coubes, C , de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M , Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M , Pacio-Míguez, M , Palomares-Bralo, M , Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M , Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C , Shieh, J T, Shohat, M , Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M , van Ravenswaaij -Arts , C M , Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C , Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine, vol. 23, no. 5, pp. 888-899. https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter,
Genetics in Medicine, 23, 5, pp. 888-899
Academic Journal
Gaasterland, C.M.W. ; Klein Haneveld, M.J. ; Vyshka, Klea; Hugon, A.; van Eeghen, A.M. ; Alhambra, Norma ; Anderlid, Britt-Marie ; Andres, Stephanie ; Aten, Emmelien ; Guedes, Rui Barbosa ; Bonaglia, Maria C. ; Bourgeron, Thomas ; Burdeus-Olavarrieta, Monica ; Carbin, Maya J. ; Cooke, Jennifer ; Damstra, Robert J. ; de Coo, Irenaeus F.M. ; Di Domenico, Stella ; Evans, D. Gareth ; Fernández-Fructuoso, José Ramón ; Grabrucker, Andreas M. ; Gunnarson, Cecilia ; Hadzsiev, Kinga ; Hennekam, Raoul C. ; Jesse, Sarah ; Kant, Sarina G. ; Koza, Sylvia A. ; Kuiper, Els ; Landlust, Annemiek M. ; Lapunzina, Pablo ; Loth, Eva ; Mansour, Sahar ; Maruani, Anna ; Mattina, Teresa ; Matulevičienė, Aušra ; Nevado, Julián ; Parker, Susanne ; Robert, Sandra ; Sala, Carlo ; San José Cáceres, Antonia ; Schön, Michael ; Šiaurytė, Kamilė ; Stemkens, Daphne ; Stiefsohn, Dominique ; Swillen, Ann ; Tabet, Anne C. ; Toro, Roberto ; Turner, Alison ; van Balkom, Ingrid D.C. ; van Buggenhout, Griet ; van Eeghen, Agnies M. ; van Ravenswaaij-Arts, Conny M.A. ; van Weering, Sabrina ; Verpelli, Chiara ; Vignes, Stephane ; Vogels, Annick ; Walinga, Margreet ; Stemkens, D. ; Maruani, A. ; Hadzsiev, K. ; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Landlust, Annemiek M. ; Koza, Sylvia A. ; Carbin, Maya ; Walinga, Margreet ; Robert, Sandra ; Cooke, Jennifer ; Vyshka, Klea ; van Balkom, Ingrid D.C. ; van Ravenswaaij-Arts, Conny
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Bena, F; Bruno, DL; Eriksson, M; van, Ravenswaaij-Arts C; Stark, Z; Dijkhuizen, T; Gerkes, E; Gimelli, S; Ganesamoorthy, D; Thuresson, AC
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 162B(4):388-403
Academic Journal
Peng X; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Jia X; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Wang H; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Chen J; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Zhang X; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Tan S; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Duan X; Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China.; Qiu C; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Hu M; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Hou H; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Parenti I; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Center for Rare Diseases (Essener Zentrum für Seltene Erkrankungen), University Hospital Essen, Essen, Germany.; Renck A; Dricoll Children's Hospital, Corpus Christi, Texas, USA.; Caylor R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Peeden J; East Tennessee Children's Hospital, The University of Tennessee Department of Medicine, Knoxville, Tennessee, USA.; Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Mercier S; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Nicolas G; Université Rouen Normandie, Normandie Université, INSERM U1245 and CHU Rouen, Department of Genetics and reference center for developmental abnormalities, F-76000 Rouen, France.; Guerrot AM; Université Rouen Normandie, Normandie Université, INSERM U1245 and CHU Rouen, Department of Genetics and reference center for developmental abnormalities, F-76000 Rouen, France.; Faletra F; Institute of Medical Genetics, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.; Department of Medicine, University of Udine, Udine, Italy.; Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy.; Cohen L; Genetics Unit, Barzilai University Medical Center, Ashkelon, Israel.; Faculty of Health Sciences, Ben-Gurion University of the Negev, Be'er Sheva, Israel.; Bergant G; Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Ljubljana, Slovenia.; Čuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; University Children's Hospital, Belgrade, Serbia.; Peterlin B; Centre for Mendelian Genomics, Clinical Institute of Genomic Medicine, UMC Ljubljana, Ljubljana, Slovenia.; Seeley A; Medical Genetics, Geisinger Medical Center, Danville, Pennsylvania, USA.; Bachman K; Medical Genetics, Geisinger Medical Center, Danville, Pennsylvania, USA.; Martinez-Agosto JA; Department of Human Genetics, Division of Medical Genetics, Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; van Ravenswaaij-Arts C; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, Netherlands.; Bos D; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, Netherlands.; Kim KH; Division of Genetics, Genomics, and Metabolism, Ann & Lurie Children's Hospital of Chicago, Department of Pediatrics, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.; Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Medical Genetics Center, Munich, Germany.; Schmederer Z; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Medical Genetics Center, Munich, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Aref-Eshghi E; GeneDx, LLC, Gaithersburg, Maryland, USA.; Zhao W; Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.; School of Medicine, Kunming University of Science and Technology, Kunming, Yunnan, China.; Zou Y; Department of Medical Genetics, Jiangxi Maternal and Child Health Hospital, Nanchang, Jiangxi, China.; Hu Z; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Pan Q; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Li F; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Chen G; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Li J; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; Hu Z; Department of Pediatrics, Daping Hospital, Army Medical University, Chongqing, China.; Xia K; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; MOE Key Lab of Rare Pediatric Diseases, School of Basic Medicine, Hengyang Medical College, University of South China, Hengyang, Hunan, China.; Tan J; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.; NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.; Guo H; Hunan Key Laboratory of Medical Genetics, Hunan Key Laboratory of Animal Models for Human Diseases, MOE Key Lab of Rare Pediatric Diseases, Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Furong Laboratory, Changsha, Hunan, China.
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Academic Journal
Rawlins LE; University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Exeter, UK.; Iffland PH 2nd; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Page J; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Flessner RZ; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Elziny SM; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Sbornova I; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Babus JK; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Bruckmeier SR; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Parikh R; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Verhoeven M; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.; Fasham J; University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Exeter, UK.; Leslie JS; University of Exeter Medical School, Exeter, UK.; Caswell R; University of Exeter Medical School, Exeter, UK.; Ubeyratna N; University of Exeter Medical School, Exeter, UK.; Wenger O; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH, USA.; Schreiber J; Children's National Medical Center, Washington, DC, USA.; Syrbe S; Center for Child and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Klabunde-Cherwon A; Center for Child and Adolescent Medicine, Heidelberg University, Heidelberg, Germany.; Owens M; Exeter Genomics Laboratory (NHS South West Genomic Laboratory Hub), Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.; Crosby AH; University of Exeter Medical School, Exeter, UK.; Baple EL; University of Exeter Medical School, Exeter, UK.; Peninsula Clinical Genetics Service, Exeter, UK.; Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
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M. M. Hitzert; S. N. van der Crabben; G. Baldewsingh; H. K. Ploos van Amstel; A. van den Wijngaard; C. M. A. van Ravenswaaij-Arts; C. W. R. Zijlmans
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
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Annemiek M. Landlust; Linda Visser; Boudien C. T. Flapper; Selma A. J. Ruiter; Renée J. Zwanenburg; Conny M. A. van Ravenswaaij-Arts; Ingrid D. C. van Balkom
Frontiers in Psychiatry, Vol 13 (2022)
Academic Journal
Alise A van Heerwaarde; Renz C W Klomberg; Conny M A van Ravenswaaij-Arts; Hans Kristian Ploos van Amstel; Aartie Toekoen; Fariza Jessurun; Abhimanyu Garg; Daniëlle C M van der Kaay
J Clin Endocrinol Metab
Academic Journal
Patrick Deelen; Sipko van Dam; Johanna C. Herkert; Juha M. Karjalainen; Harm Brugge; Kristin M. Abbott; Cleo C. van Diemen; Paul A. van der Zwaag; Erica H. Gerkes; Evelien Zonneveld-Huijssoon; Jelkje J. Boer-Bergsma; Pytrik Folkertsma; Tessa Gillett; K. Joeri van der Velde; Roan Kanninga; Peter C. van den Akker; Sabrina Z. Jan; Edgar T. Hoorntje; Wouter P. te Rijdt; Yvonne J. Vos; Jan D. H. Jongbloed; Conny M. A. van Ravenswaaij-Arts; Richard Sinke; Birgit Sikkema-Raddatz; Wilhelmina S. Kerstjens-Frederikse; Morris A. Swertz; Lude Franke
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
Academic Journal
Lévy J; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Schell B; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Nasser H; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Rachid M; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Ruaud L; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Université de Paris Medical School, Paris, France.; INSERM UMR1141, Paris University, APHP, Robert-Debré Hospital, Paris, France.; Couque N; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Callier P; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Laboratoire de Génétique Chromosomique et Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Faivre L; Centre de Génétique et Centre de référence 'Anomalies du Développement et Syndromes Malformatifs', Hôpital d'Enfants, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Marle N; Laboratoire de Génétique Chromosomique et Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Engwerda A; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; van Ravenswaaij-Arts CMA; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.; Plutino M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France.; Karmous-Benailly H; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France.; Benech C; Etablissement Français du Sang, Brest, France.; Redon S; Laboratoire de Génétique Moléculaire et Histocompatibilité, Service de Génétique Médicale, CHRU, Brest, France.; Boute O; CHU Lille, Clinique de Génétique 'Guy Fontaine', Lille, France.; Boudry Labis E; CHU Lille, Institut de Génétique Médicale, Lille, France.; Rama M; CHU Lille, Institut de Génétique Médicale, Lille, France.; Kuentz P; UMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, Dijon, France.; Génétique Biologique, PCBio, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Assoumani J; Clinical Investigation Center 1431, INSERM, Besançon, France.; Maldergem LV; Clinical Investigation Center 1431, INSERM, Besançon, France.; Center of Human Genetics, University of Franche-Comté, Besançon, France.; Dupont C; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Verloes A; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Université de Paris Medical School, Paris, France.; INSERM UMR1141, Paris University, APHP, Robert-Debré Hospital, Paris, France.; Tabet AC; Genetics Department, APHP, Robert-Debré University Hospital, Paris, France.; Neuroscience Department, Human Genetics and Cognitive Function Unit, Pasteur Institute, Paris, France.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Levitin MO; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Evox Therapeutics Limited, Oxford OX4 4HG, UK.; Rawlins LE; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK.; Sanchez-Andrade G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Arshad OA; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Collins SC; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France.; Sawiak SJ; Behavioural and Clinical Neuroscience Institute, University of Cambridge, Cambridge CB2 3EB, UK.; Wolfson Brain Imaging Centre, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Iffland PH 2nd; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Andersson MHL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Bupp C; Spectrum Health, Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA.; Cambridge EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Coomber EL; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Ellis I; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L14 5AB, UK.; Herkert JC; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands.; Ironfield H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Jory L; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK.; Kretz PF; IGBMC, UMR7104, INSERM, Illkirch 67404, France.; Kant SG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam 3015 GD, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300 RC, The Netherlands.; Neaverson A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Genetics, University of Cambridge, Cambridge CB2 3EH, UK.; Nibbeling E; Laboratory for Diagnostic Genome Analysis, Department of Clinical Genetics, Leiden University Medical Center, Leiden 3015 GD, The Netherlands.; Rowley C; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK.; Relton E; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Faculty of Health and Medical Science, University of Surrey, Guildford GU2 7YH, UK.; Sanderson M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Scott EM; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK.; Shuen AY; London Health Sciences Centre, London, ON N6A 5W9, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON N6A 5W9, Canada.; Schreiber J; Department of Neurology, Children's National Medical Center, Washington DC 20007, USA.; Tuck L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Tonks J; Haven Clinical Psychology Practice Ltd, Bude, Cornwall EX23 9HP, UK.; Terkelsen T; Department of Clinical Genetics, Aarhus University Hospital, Aarhus DK-8200, Denmark.; van Ravenswaaij-Arts C; Department of Genetics, University Medical Centre, University of Groningen, Groningen 9713 GZ, The Netherlands.; Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK.; Wenger O; New Leaf Center, Clinic for Special Children, Mount Eaton, OH 44659, USA.; Wright M; Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne NE1 7RU, UK.; Day A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Qkine Ltd., Cambridge CB5 8HW, UK.; Hunter A; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Patel M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Lelliott CJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Institute of Metabolic Science, Cambridge University, Cambridge CB2 0QQ, UK.; Crino PB; Department of Neurology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.; Yalcin B; INSERM Unit 1231, Université de Bourgogne Franche-Comté, Dijon 21078, France.; Crosby AH; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Baple EL; RILD Wellcome Wolfson Medical Research Centre, University of Exeter, Exeter EX2 5DW, UK.; Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX1 2ED, UK.; Logan DW; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Waltham Petcare Science Institute, Waltham on the Wolds LE14 4RT, UK.; Hurles ME; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Gerety SS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Open Targets, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Human Reproduction. 32:2574-2580
Academic Journal
Jazayeri, Omid ; Liu, Xuanzhu ; van Diemen, Cleo C. ; Bakker-van Waarde, Willie M. ; Sikkema-Raddatz, Birgit ; Sinke, Richard J. ; Zhang, Jianguo ; van Ravenswaaij-Arts, Conny M.A.
In European Journal of Medical Genetics December 2015 58(12):642-649
Book
Genetic Syndromes ISBN: 9783319668161
Academic Journal
H. Van Parys; E. Wyverkens; V. Provoost; A. Ravelingien; I. Raes; S. Somers; I. Stuyver; P. De Sutter; G. Pennings; A. Buysse; V. S. Anttila; M. Salevaara; A. M. Suikkari; D. R. Listijono; S. Mooney; M. G. Chapman; U. Res Muravec; S. Pusica; M. Lomsek; M. Cizek Sajko; S. Parames; L. Semiao-Francisco; H. Sato; J. Ueno; L. van den Wijngaard; M. H. Mochtar; H. van Dam; F. van der Veen; M. van Wely; I. A. P. Derks-Smeets; J. J. G. Habets; A. Tibben; V. C. G. Tjan-Heijnen; M. Meijer-Hoogeveen; J. P. M. Geraedts; R. van Golde; E. Gomez-Garcia; C. E. M. de Die-Smulders; L. A. D. M. van Osch; C. M. Kets; S. Gullo; Z. Donarelli; G. L. Coco; A. Marino; A. Volpes; F. Sammartano; A. Allegra; J. Nekkebroeck; H. Tournaye; D. Stoop; G. Lo Coco; F. Coffaro; D. G. Diaz; M. A. Gonzalez; M. Tirado; S. Chamorro; P. Dolz; M. A. Gil; A. Ballesteros; E. Velilla; C. Castello; N. Moina; M. Lopez-Teijon; C. H. Y. Chan; C. L. W. Chan; M. K. H. Leong; I. K. M. Cheung; T. H. Y. Chan; B. N. L. Hui; A. J. C. M. van Dongen; A. G. Huppelschoten; J. A. M. Kremer; W. L. D. M. Nelen; C. M. Verhaak; H. G. Sun; K. H. Lee; I. H. Park; S. G. Kim; J. H. Lee; Y. Y. Kim; H. J. Kim; J. D. Cho; Y. J. Yoo; V. Frokjaer; A. Pinborg; E. C. Larsen; M. Heede; D. S. Stenbaek; S. Henningsson; A. P. Nielsen; C. Svarer; K. K. Holst; G. M. Knudsen; M. Emery; L. DeJonckheere; S. Rothen; M. Wisard; M. Germond; M. Toftager; L. V. Hjordt; P. S. Jensen; K. Holst; T. Holland; T. Bryndorf; J. Bogstad; P. Hornnes; V. G. Frokjaer; L. M. N. Dornelles; F. MacCallum; R. C. S. Lopes; C. A. Piccinini; E. P. Passos; C. Bruegge; P. Thorn; K. Daniels; S. Imrie; V. Jadva; S. Golombok; Y. Arens; G. De Krom; R. J. T. Van Golde; E. Coonen; C. M. A. Van Ravenswaaij-Arts; J. L. H. Evers; C. E. M. De Die-Smulders; G. Ghazeeri; J. Awwad; A. Fakih; H. Abbas; S. Harajly; L. Tawidian; F. Maalouf; D. Ajdukovic; M. Pibernik-Okanovic; M. S. Alebic; G. Baccino; C. Calatayud; E. Ricciarelli; E. R. H. de Miguel; K. Wierckx; H. Verstraelen; L. Van Glabeke; E. Van den Abbeel; J. Gerris; G. T'Sjoen; B. Monica; R. N. Calonge; P. C. Peregrin; R. Cserepes; J. Kollar; T. Wischmann; A. Bugan; C. Pinkard; C. Harrison; L. Bunting; J. Boivin; B. Fulford; N. Theusink-Kirchhoff; C. M. A. van Ravenswaaij-Arts; M. K. Bakker; C. Volks; Z. Papaligoura; D. Papadatou; T. H. Bellali; S. Jarvholm; M. Broberg; A. Thurin-Kjellberg; G. Weitzman; T. M. Van Der Putten-Landau; S. Chudnoff; E. Panagopoulou; B. Tarlatzis; V. Tamhankar; G. L. Jones; P. Magill; J. D. Skull; W. Ledger; H. W. Hvidman; I. O. Specht; K. T. Schmidt; A. N. Andersen; T. Freeman; S. Zadeh; V. Smith; L. H. R. Whitaker; J. Reid; J. Wilson; H. O. D. Critchley; A. W. Horne; B. Peterson; M. Pirritano; L. Schmidt; H. Volgsten; N. Hudson; L. Culley; C. Law; E. Denny; H. Mitchell; M. Baumgarten; N. Raine-Fenning; L. Blake; K. H. Kim
Human Reproduction. 28:i261-i282
Academic Journal
Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E
Nature Genetics. January, 2017, Vol. 49 Issue 1, p36, 10 p.
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