부산대학교 도서관

Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E MHF; del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C L; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J HM; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C; Perez-Jurado, L; Dupont, J; de Vries, B BA; Brunner, H G; Veltman, J A; Merla, G; Antonarakis, S E; Hoischen, A

Clinical Genetics. Dec 01, 2013 84(6):539-545

Faundes, V; Akilapa, R; Bezuidenhout, H; Bjornsson, HT; Brady, AF; Brischoux-Boucher, E; Brunner, H; Bulk, S; Canham, N; Cody, D; Dentici, ML; Digilio, MC; Elmslie, F; Fry, AE; Gill, H; Julia, S; Lachlan, K; Lebel, RR; Byler, M; Gershon, E; Lemire, E; Gnazzo, M; Lepri, FR; Marchese, A; McEntagart, M; McGaughran, J; Mizuno, S; Rieubland, C; Sasaki, E; Scalais, E; Scurr, I; Suri, M; van der Burgt, I; Matsumoto, N; Miyake, N; Benoit, V; Lederer, D; Banka, S

Faundes, V, Akilapa, R, Bezuidenhout, H, Bjornsson, HT, Brady, AF, Brischoux-Boucher, E, Brunner, H, Bulk, S, Canham, N, Cody, D, Dentici, ML, Digilio, MC, Elmslie, F, Fry, AE, Gill, H, Julia, S, Lachlan, K, Lebel, RR, Byler, M, Gershon, E, Lemire, E, Gnazzo, M, Lepri, FR, Marchese, A, McEntagart, M, McGaughran, J, Mizuno, S, Rieubland, C, Sasaki, E, Scalais, E, Scurr, I, Suri, M, van der Burgt, I, Matsumoto, N, Miyake, N, Benoit, V, Lederer, D & Banka, S 2022, 'Clinical delineation, sex differences and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome Type 2', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 24-25.

Faas, B H; van der Burgt, I; Kooper, A J; Pfundt, R; Hehir-Kwa, J Y; Smits, A P; de Leeuw, N

Journal of Medical Genetics. Sep 01, 2010 47(9):586-594

Noordam, C; Van Der Burgt, I; Sengers, R C A; Delemarre-Van De Waal, H A; Otten, B J

Acta Paediatrica. Aug2001, Vol. 90 Issue 8, p889-894. 6p. 1 Diagram, 3 Charts, 2 Graphs.

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M

Clinical Genetics. Jan 01, 2008 73(1):62-70

van Steensel, M A; van Geel, M; van der Burgt, I; Vermeer, M H; Steijlen, P M

The Journal of Investigative Dermatology. May 01, 2005 124 Suppl 4:A76-A76

Hiel, J A P; Weemaes, C M R; van Engelen, B G M; Smeets, D; Ligtenberg, M; van der Burgt, I; van den Heuvel, L P W J; Cerosaletti, K M; Gabreëls, F J M; Concannon, P

Journal of Medical Genetics. Jun 01, 2001 38(6):e19-e19

ION, A; CROSBY, A H; KREMER, H; KENMOCHI, N; VAN REEN, M; FENSKE, C; VAN DER BURGT, I; BRUNNER, H G; MONTGOMERY, K; KUCHERLAPATI, R S; PATTON, M A; PAGE, D C; MARIMAN, E; JEFFERY, S

Journal of Medical Genetics. Nov 01, 2000 37(11):884-886

Flex, E.; Jaiswal, M.; Pantaleoni, F.; Martinelli, S.; Strullu, M.; Fansa, E.K.; Caye, A.; De Luca, A.; Lepri, F.; Dvorsky, R.; Pannone, L.; Paolacci, S.; Zhang, S.C.; Fodale, V.; Bocchinfuso, G.; Rossi, C.; Burkitt-Wright, E.M.; Farrotti, A.; Stellacci, E.; Cecchetti, S.; Ferese, R.; Bottero, L.; de Castro, S.; Fenneteau, O.; Brethon, B.; Sanchez, M.; Roberts, A.E.; Yntema, H.G.; van der Burgt, I.; Cianci, P.; Bondeson, M.L.; Digilio, M.C.; Zampino, G.; Kerr, B.; Aoki, Y.; Loh, M.L.; Palleschi, A.; Di Schiavi, E.; Care, A.; Selicorni, A.; Dallapiccola, B.; Cirstea, I.C.; Stella, L.; Zenker, M.; Gelb, B.D.; Cave, H.; Ahmadian, M.R.; Tartaglia, M.

Hum Mol Genet
Human molecular genetics
23 (2014): 4315–4327. doi:10.1093/hmg/ddu148
info:cnr-pdr/source/autori:Flex E.; Jaiswal M.; Pantaleoni F.; Martinelli E.; Strullu M.; Fansa E.K.; Caye A.; De Luca A.; Lepri F.; Dvorsky R.; Pannone L.; Paolacci S.; Zhang S.-C.; Fodale V.; Bocchinfuso G.; Rossi C.; Burkitt-Wright E.M.M.; Farrotti A.; Stellacci E.; Cecchetti S.; Ferese R.; Bottero L.; Castro S.; Fenneteau O.; Brethon B.; Sanchez M.; Roberts A.E.; Yntema H.G.; Van Der Burgt I.; Cianci P.; Bondeson M.L.; Digilio M.C.; Zampino G.; Kerr B.; Aoki B.K.; Loh M.L.; Palleschi A.; Di Schiavi E.; Care A.; Selicorni A.; Dallapiccola B.; Cirstea I.C.; Stella L.; Zenker M.; Gelb B.D.; Cave H.; Ahmadian M.R.; Tartaglia M./titolo:Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis/doi:10.1093%2Fhmg%2Fddu148/rivista:Human molecular genetics (Print)/anno:2014/pagina_da:4315/pagina_a:4327/intervallo_pagine:4315–4327/volume:23
Human Molecular Genetics, 23, 16, pp. 4315-27

Hamel, B C; Raams, A; Schuitema-Dijkstra, A R; Simons, P; van der Burgt, I; Jaspers, N G; Kleijer, W J

Journal of Medical Genetics; Jul1996, Vol. 33 Issue 7, p607-610, 4p

van der Burgt, I; Chrzanowska, K H; Smeets, D; Weemaes, C

Journal of Medical Genetics; Feb1996, Vol. 33 Issue 2, p153-156, 4p

Schulz, A L; Albrecht, B; Arici, C; van der Burgt, I; Buske, A; Gillessen-Kaesbach, G; Heller, R; Horn, D; Hübner, C A; Korenke, G C; König, R; Kress, W; Krüger, G; Meinecke, P; Mücke, J; Plecko, B; Rossier, E; Schinzel, A; Schulze, A; Seemanova, E; Seidel, H; Spranger, S; Tuysuz, B; Uhrig, S; Wieczorek, D; Kutsche, K; Zenker, M

Clinical Genetics, 73, 1, pp. 62-70

Chiu ATG; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Department of Paediatrics, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong.; Pei SLC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Mak CCY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Leung GKC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Yu MHC; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Lee SL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Department of Paediatrics, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong.; Vreeburg M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, the Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.; Frederic TM; 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 Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, Dijon, France.; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Dijon, France.; Nambot S; 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 Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire de Dijon, 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.; Bruel AL; INSERM UMR 1231 GAD, Génétique des Anomalies du Développement, Dijon, France.; Rossi M; Service de Génétique, Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Lyon, France.; GENDEV Team, Centre de Recherche en Neurosciences de Lyon, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; INSERM, UMR-S 957, Nantes, France.; Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Willems M; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Plateforme Recherche de Microremaniements Chromosomiques, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Faculté de Médecine Montpellier-Nîmes, Université de Montpellier, Montpellier, France.; Reijnders MRF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands.; Chung BHY; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.; Department of Paediatrics, Duchess of Kent Children's Hospital, Hong Kong, Hong Kong.

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

Tartaglia, M; Martinelli, S; STELLA, LORENZO; BOCCHINFUSO, GIANFRANCO; Flex, E; Cordeddu, V; Zampino, G; Van Der Burgt, I; PALLESCHI, ANTONIO; Petrucci, TC; Sorcini, M; Schoch, C; Foa, R; Emanuel, PD; Gelb, BD

The American Journal of Human Genetics. 78:279-290

Tartaglia, Marco; Mehler, El; Goldberg, R; Zampino, Giuseppe; Brunner, Hg; Kremer, H; Van Der Burgt, I; Crosby, Ah; Ion, A; Jeffery, S; Kalidas, K; Patton, Ma; Kucherlapati, Rs; Gelb, Bd

Nature Genetics, 29, 4, pp. 465--8

Schrander-Strumpel, CTRM; van der Burgt, I; Noordam, C; Schrander, JJP; Smeets, E; Thonnen, G; Verhoeven, Willem; Vreeburg, B; Curfs, LMG

Klinische genetica ISBN: 9789031339396

Douzgou, S; Clayton-Smith, J; Gardner, S; Day, R; Griffiths, P; Strong, K; Amiel, J; Baraitser, M; Brueton, L; Brunner, H; Chrzanowska, K; Dallapiccola, B; Del Campo Casanelles, M; Devriendt, K; Donnai, D; Fitzpatrick, D; Gillessen-Kaesbach, G; Houge, G; Kerr, B; Krajewska-Walasek, M; Lacombe, D; Meinecke, P; Metcalfe, K; Mortier, G; Odent, S; Philip, N; Prescott, T; Raas-Rothschild, A; Rauch, A; Rittinger, O; Salonen, R; Schrander-Stumpel, C; Suri, M; Temple, K; Tolmie, J; Van Der Burgt, I; Verloes, A; Wieczorek, D; Zenker, M

Croonen EA; Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.; Nillesen W; Schrander C; Jongmans M; Scheffer H; Noordam C; Draaisma JM; van der Burgt I; Yntema HG

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Wingbermühle E; Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.pwingbermuhle@vvgi.nl; Roelofs RL; van der Burgt I; Souren PM; Verhoeven WM; Kessels RP; Egger JI

Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav Subsets: MEDLINE

Marcus KA; Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. k.marcus@cukz.umcn.nl; Sweep CG; van der Burgt I; Noordam C

Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Print ISSN: 0334-018X (Print) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE