학술논문
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'학술논문'
에서 검색결과 144건 | 목록
1~20
Academic Journal
Hirschfeld, Adam S.; Misiorek, Julia O.; Dabrowska, Magdalena; Muszynski, Jakub; Gerhart, Brandon J.; Zenczak, Michał; Rakoczy, Magdalena; Rolle, Katarzyna; Switonski, Pawel M.; Napierala, Jill S.; Handschuh, Luiza; Napierala, Marek; Badura-Stronka, Magdalena
Journal of Applied Genetics. 66(4):895-902
Academic Journal
Szoszkiewicz A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Department of Medical Genetics, Doctoral School, Poznan University of Medical Sciences, 61-701 Poznan, Poland.; Sowińska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Wnuk-Kłosińska A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Department of Medical Genetics, Doctoral School, Poznan University of Medical Sciences, 61-701 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Bukowska-Olech E; Department of Laboratory Diagnostics, Poznan University of Medical Sciences, 60-569 Poznan, Poland.; University Clinical Hospital in Poznań, 60-786 Poznan, Poland.; Biel K; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Matuszewska K; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Biel M; Department of Radiology, HCP Medical Center Poznan, 61-485 Poznan, Poland.; Badura-Stronka M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Glazar R; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Jakubiuk-Tomaszuk A; Department of Neurology and Pediatrics, Medical University of Bialystok, 15-274 Bialystok, Poland.; Krawczyński M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Szczałuba K; Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland.; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.; Śledzińska K; Department and Clinics of Pediatrics, Hematology and Oncology, Medical University of Gdansk, 80-952 Gdansk, Poland.; Wiśniewska M; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.; Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.; Diagnostyka GENESIS, 60-529 Poznan, Poland.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Conference
Ivanovski, Ivan; Djuric, Olivera; Broccoli, Serena; Caraffi, Stefano Giuseppe; Accorsi, Patrizia; Adam, M. P.; Avela, Kristina; Badura-Stronka, Magdalena; Bayat, Allan; Clayton-Smith, J; Cordelli, Duccio Maria; Cuturilo, Goran; Di Pisa, Veronica; Garcia, J. Dupont; Gastaldi, Roberto; Giordano, L.; Guala, Andrea; Hoei-Hansen, Christina Engel; Inaba, Mie; Iodice, Alessandro; Nielsen, Jens Erik Klint; Kuburovic, Vladimir; Lazalde-Medina, Brissia; Malbora, Baris; Mizuno, Seiji; Moldovan, Oana; Møller, Rikke Steensbjerre; Muschke, Petra; Pantaleoni, Chiara; Piscopo, Carmelo; Poch-Olive, Maria Luisa; Prpic, Igor; Purificacion, M.; Raviglione, Federico; Ricci, Emilia; Scarano, Emanuela; Smigiel, Robert; Tanteles, George; Tarani, Luigi; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha A; Writzl, Karin; Callewaert, Bert; Savasta, Salvatore; Street, Maryann; Iughetti, Lorenzo; Bernasconi, Sergio; Rossi, P. Giorgi; Garavelli, Livia
Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S, Accorsi, P, Adam, M P, Avela, K, Badura -Stronka , M , Bayat, A, Clayton-Smith, J, Cordelli, D, Cuturilo, G, Di Pisa, V, Garcia, J D, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M , Iodice, A, Nielsen, J, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Moller, R, Muschke, P, Pantaleoni, C, Piscopo, C, Poch-Olive, M , Prpic, I, Purificacion, M , Raviglione, F, Ricci, E, Scarano, E, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E, Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, M , Iughetti, L, Bernasconi, S, Rossi, P G & Garavelli, L 2020, ' Mowat-Wilson syndrome: growth charts ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, P11.61.A, pp. 471-473 .
Academic Journal
Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Centers for Medical Genetics GENESIS, Poznań, Poland.; Wołyńska K; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.; Winczewska-Wiktor A; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Poznań, Poland.; Marcinkowska J; Chair and Department of Informatics and Statistics, Poznan University of Medical Sciences, Poznań, Poland.; Karolewska D; Center for Child's Health of Wielkopolska Region, Poznań, Poland.; Tomkowiak-Kędzia D; Center for Child's Health of Wielkopolska Region, Poznań, Poland.; Piechota M; Centers for Medical Genetics GENESIS, Poznań, Poland.; Przyborska M; Centers for Medical Genetics GENESIS, Poznań, Poland.; Kochalska N; Centers for Medical Genetics GENESIS, Poznań, Poland.; Steinborn B; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Poznań, Poland.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE
Academic Journal
Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie ; Lüdecke, Hermann-Josef ; van der Tuin, Karin ; Badura-Stronka, Magdalena ; Belligni, Elga ; Biamino, Elisa ; Bonati, Maria Teresa ; Carvalho, Daniel R. ; Cobben, JanMaarten ; de Man, Stella A. ; Den Hollander, Nicolette S. ; Di Donato, Nataliya ; Garavelli, Livia ; Grønborg, Sabine ; Herkert, Johanna C. ; Hoogeboom, A. Jeannette M. ; Jamsheer, Aleksander ; Latos-Bielenska, Anna ; Maat-Kievit, Anneke ; Magnani, Cinzia ; Marcelis, Carlo ; Mathijssen, Inge B. ; Nielsen, Maartje ; Otten, Ellen ; Ousager, Lilian B. ; Pilch, Jacek ; Plomp, Astrid ; Poke, Gemma ; Poluha, Anna ; Posmyk, Renata ; Rieubland, Claudine ; Silengo, Margharita ; Simon, Marleen ; Steichen, Elisabeth ; Stumpel, Connie ; Szakszon, Katalin ; Polonkai, Edit ; van den Ende, Jenneke ; van der Steen, Antony ; van Essen, Ton ; van Haeringen, Arie ; van Hagen, Johanna M. ; Verheij, Joke B.G.M. ; Mannens, Marcel M. ; Hennekam, Raoul C.
In European Journal of Medical Genetics May 2015 58(5):279-292
Academic Journal
B, Budny; M, Badura-Stronka; A, Materna-Kiryluk; A, Tzschach; M, Raynaud; A, Latos-Bielenska; H H, Ropers
Clinical Genetics. 77:541-551
Academic Journal
Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, Marie-Louise; Annerén, Göran; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M.
Molecular Psychiatry. 21(1):133-148
Academic Journal
Kumar, Raman; Corbett, Mark A.; van Bon, Bregje W.M.; Gardner, Alison; Woenig, Joshua A.; Jolly, Lachlan A.; Douglas, Evelyn; Friend, Kathryn; Tan, Chuan; Van Esch, Hilde; Holvoet, Maureen; Raynaud, Martine; Field, Michael; Leffler, Melanie; Budny, Bartłomiej; Wisniewska, Marzena; Badura-Stronka, Magdalena; Latos-Bieleńska, Anna; Batanian, Jacqueline; Rosenfeld, Jill A.; Basel-Vanagaite, Lina; Jensen, Corinna; Bienek, Melanie; Froyen, Guy; Ullmann, Reinhard; Hu, Hao; Love, Michael I.; Haas, Stefan A.; Stankiewicz, Pawel; Cheung, Sau Wai; Baxendale, Anne; Nicholl, Jillian; Thompson, Elizabeth M.; Haan, Eric; Kalscheuer, Vera M.; Gecz, Jozef
Human Molecular Genetics, 24, 25, pp. 7171-81
Human Molecular Genetics
Human Molecular Genetics
Academic Journal
Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. badurastronka@ump.edu.pl.; Centers for Medical Genetics GENESIS, Poznan, Poland. badurastronka@ump.edu.pl.; Hirschfeld AS; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.; Globa E; Department of Pediatric Endocrinology, Ukrainian Research Center of Endocrine Surgery, Endocrine Organs and Tissue Transplantation, Kiev, Ukraine.; Winczewska-Wiktor A; Chair and Department of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.; Potulska-Chromik A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Wicher D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.; Krawczyński MR; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.; Centers for Medical Genetics GENESIS, Poznan, Poland.
Publisher: Springer Country of Publication: England NLM ID: 9514582 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-3883 (Electronic) Linking ISSN: 12341983 NLM ISO Abbreviation: J Appl Genet Subsets: MEDLINE
Academic Journal
M, Badura-Stronka; A, Jamsheer; A, Materna-Kiryluk; A, Sowińska; K, Kiryluk; B, Budny; A, Latos-Bieleńska
Clinical Genetics. 77:141-144
Academic Journal
Latos-Bieleńska, A[nna]; Materna-Kiryluk, A[nna]; Badura-Stronka, M[agdalena]; Wiśniewska, K[atarzyna]; Borszewska-Kornacka, M[aria]; Bręborowicz, G[rzegorz]; Czerwionka-Szaflarska, M[ieczysława]; Dobrzańska, A.; Gadzinowski, J[anusz]; Gajewska, E[lżbieta]; Godula-Stuglik, U[rszula]; Krawczyński, M.; Limon, J[anusz]; Mejnartowicz, J[an]; Oleszczuk, J[an]; Rusin, J[ózef]; Sawulicka-Oleszczuk, H[enryka]; Stańczyk, J[erzy]; Szczapa, J[erzy]; Szwałkiewicz-Waronicka, E[wa]; Wysocki, J[acek]
Archives of Perinatal Medicine. 14(3):5-60
Academic Journal
Badura-Stronka, M.; Jamsheer, A.; Materna-Kiryluk, A.; Wiśniewski, K.; Więckowska, B.; Kitylyuk, K.; Mejnartowicz, J; Balcar-Boroń, Anna; Borszewska-Kornacka, Maria; Czerwonka-Szaflarska, M.; Gajewska, E; Godula-Stuglik, Urszula; Krawczyński, M.; Limon, J; Rusin, J; Sawulicka-Oleszczuk, Henryka; Szwalkiewicz-Warowicka, Ewa; Świetliński, J; Walczak, M.
Archives of Perinatal Medicine. 14(1):23-28
Academic Journal
Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, Poland.; Popłonyk N; Student Scientific Society, Poznań University of Medical Sciences, Poznań, Poland.; Badura-Stronka M; Centers for Medical Genetics Genesis, Poznań, Poland.; Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Poznań, Poland.; Juengling J; Zentrum Fur Humangenetik Tübingen, Tübingen, Germany.; Huhn K; Zentrum Fur Humangenetik Tübingen, Tübingen, Germany.; Biskup S; Zentrum Fur Humangenetik Tübingen, Tübingen, Germany.; CeGaT GmbH, Tübingen, Germany.; Bancerz B; Department of Pediatric Gastroenterology and Metabolic Diseases, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, Poland.; Walkowiak J; Department of Pediatric Gastroenterology and Metabolic Diseases, Institute of Pediatrics, Karol Jonscher University Hospital, Poznań University of Medical Sciences, Poznań, Poland.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Clinical Genetics. 78:94-97
Academic Journal
Szczawińska-Popłonyk A; Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznań University of Medical Sciences, Poznań, Poland; aszczawinska@ump.edu.pl; klinikapad@skp.ump.edu.pl.; Bernat-Sitarz K; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.; Schwartzmann E; Medical student, English Division, Poznań University of Medical Sciences, Poznań, Poland.; Piechota M; Centers for Medical Genetics GENESIS, Poznań, Poland.; Badura-Stronka M; Centers for Medical Genetics GENESIS, Poznań, Poland.; Chair and Department of Medical Genetics, Poznań University of Medical Sciences, Poznań, Poland.
Publisher: Codon Publications Country of Publication: Singapore NLM ID: 0370073 Publication Model: eCollection Cited Medium: Internet ISSN: 1578-1267 (Electronic) Linking ISSN: 03010546 NLM ISO Abbreviation: Allergol Immunopathol (Madr) Subsets: MEDLINE
Academic Journal
Lee S; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Ochoa E; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Badura-Stronka M; Poznan University of Medical Sciences, Poznań, Poland.; Donnelly D; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland, UK.; Lederer D; Centre for Human Genetics, IPG, Charleroi, Belgium.; Lynch SA; Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Republic of Ireland.; Gardham A; London North West University Healthcare NHS Trust Genetics Service, Middlesex, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Docquier F; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, UK.; Rodger F; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, UK.; Martin E; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, UK.; Toribio A; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, UK.; Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK. erm1000@medschl.cam.ac.uk.; Balasubramanian M; Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK. m.balasubramanian@sheffield.ac.uk.; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. m.balasubramanian@sheffield.ac.uk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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