부산대학교 도서관

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)

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)

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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)
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Genetics in Medicine, 23, 5, pp. 888-899

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

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)

Koza, Sylvia A. ; Tabet, Anne C. ; Bonaglia, Maria C. ; Andres, Stephanie ; Anderlid, Britt-Marie. ; Aten, Emmelien ; Stiefsohn, Dominique ; Evans, D. Gareth ; van Ravenswaaij-Arts, Conny M.A. ; Kant, Sarina G.

In European Journal of Medical Genetics July 2023 66(7)

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)

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

Ravenswaaij-Arts, Conny van ; Damstra, Robert J. ; Vignes, Stéphane ; Mansour, Sahar

In European Journal of Medical Genetics June 2023 66(6)

Zwijnenburg, P. J.G.; Lakeman, P.; Pfundt, R.; Klein Wassink-Ruiter, J. S.; Kerstjens-Frederikse, W. S.; Van Ravenswaaij-Arts, C. M.A.

Tijdschrift voor Kindergeneeskunde. 82:3-18

Vlaskamp, Danique R.M. ; Rump, Patrick ; Callenbach, Petra M.C. ; Brilstra, Eva H. ; Velthuizen, Mary E. ; Brouwer, Oebele F. ; Ranchor, Adelita V. ; van Ravenswaaij-Arts, Conny M.A.

In European Journal of Paediatric Neurology May 2021 32:128-135

Vincent Strehlow; Henrike O Heyne; Danique R M Vlaskamp; Katie F M Marwick; Gabrielle Rudolf; Julitta de Bellescize; Saskia Biskup; Eva H Brilstra; Oebele F Brouwer; Petra M C Callenbach; Julia Hentschel; Edouard Hirsch; Peter C Kind; Cyril Mignot; Konrad Platzer; Patrick Rump; Paul A Skehel; David J A Wyllie; Giles E Hardingham; Conny M A van Ravenswaaij-Arts; Gaetan Lesca; Johannes R Lemke; Alexis Arzimanoglou; Paul B Augustijn; Patrick Van Bogaert; Helene Bourry; Peter Burfeind; Yoyo Chu; Brian Chung; Diane Doummar; Patrick Edery; Aviva Fattal-Valevski; Mélanie Fradin; Marion Gerard; Christa de Geus; Boudewijn Gunning; Danielle Hasaerts; Ingo Helbig; Katherine L Helbig; Rami Jamra; Mélanie Jennesson Lyver; Jolien S Klein Wassink-Ruiter; David A Koolen; Damien Lederer; Roelineke J Lunsing; Mikaël Mathot; Hélène Maurey; Shay Menascu; Anne Michel; Ghayda Mirzaa; Diana Mitter; Hiltrud Muhle; Rikke S Møller; Caroline Nava; Margaret O’Brien; Evelyn van Pinxteren-Nagler; Anne van Riesen; Christelle Rougeot; Damien Sanlaville; Jolanda H Schieving; Steffen Syrbe; Hermine E Veenstra-Knol; Nienke Verbeek; Dorothée Ville; Yvonne J Vos; Pascal Vrielynck; Sabrina Wagner; Sarah Weckhuysen; Marjolein H Willemsen

Brain
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Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
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McGregor-Schuerman, Magda ; Lo Fo Sang, Audrey ; Bihari, Santusha ; Ramdajal, Natasja ; Suijkerbuijk, Ron F. ; van Ravenswaaij-Arts, Conny MA

In European Journal of Medical Genetics June 2020 63(6)

van Heerwaarde, Alise A.; Klomberg, Renz C. W.; van Ravenswaaij-Arts, Conny M. A.; van Amstel, Hans Kristian Ploos; Toekoen, Aartie; Jessurun, Fariza; Garg, Abhimanyu; van der Kaay, Danielle C.M.

Journal of Clinical Endocrinology & Metabolism. December, 2021, Vol. 106 Issue 12, p3621, 13 p.

Vlaskamp, Danique R.M. ; Callenbach, Petra M.C. ; Rump, Patrick ; Giannini, Lucia A.A. ; Brilstra, Eva H. ; Dijkhuizen, Trijnie ; Vos, Yvonne J. ; van der Kevie-Kersemaekers, Anne-Marie F. ; Knijnenburg, Jeroen ; de Leeuw, Nicole ; van Minkelen, Rick ; Ruivenkamp, Claudia A.L. ; Stegmann, Alexander P.A. ; Brouwer, Oebele F. ; van Ravenswaaij-Arts, Conny M.A.

In European Journal of Medical Genetics April 2019 62(4):265-269

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)

Maria O. Levitin; Lettie E Rawlins; Gabriela Sanchez-Andrade; Osama A. Arshad; Stephan C. Collins; Stephen J. Sawiak; Phillip H. Iffland; Malin H.L. Andersson; Caleb Bupp; Emma L. Cambridge; Eve L. Coomber; Ian Ellis; Johanna C. Herkert; Holly Ironfield; Logan Jory; Perrine F. Kretz; Sarina G. Kant; Alexandra Neaverson; Esther Nibbeling; Christine Rowley; Emily Relton; Mark Sanderson; Ethan M. Scott; Helen Stewart; Andrew Y. Shuen; John Schreiber; Liz Tuck; James Tonks; Thorkild Terkelsen; Conny van Ravenswaaij-Arts; Pradeep Vasudevan; Olivia Wenger; Michael Wright; Andrew Day; Adam Hunter; Minal Patel; Christopher J. Lelliott; Peter B. Crino; Binnaz Yalcin; Andrew Crosby; Emma L. Baple; Darren W. Logan; Matthew E. Hurles; Sebastian S. Gerety

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)

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)

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; 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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; 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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