학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 636건 | 목록
1~20
Academic Journal
Cieślikowska A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Madej-Pilarczyk A; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Iwanowski P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Wicher D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Jędrzejowska M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, ul. Kasprzaka 17a, 01-211 Warsaw, Poland.; Jurkiewicz D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Gawlik M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Halat-Wolska P; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Błaszkiewicz J; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Mendrek I; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Chrzanowska K; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Młynek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Stawiński P; Department of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.; Kosińska J; Department of Medical Genetics, Medical University of Warsaw, ul. Żwirki i Wigury 61, 02-091 Warsaw, Poland.; Krajewska-Walasek M; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.; Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Journal of Applied Genetics. 62:469-475
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
Academic Journal
Sluijs, P.J. van der; Jansen, S.; Vergano, S.A.; Adachi-Fukuda, M.; Alanay, Y.; AlKindy, A.; Baban, A.; Bayat, A.; Beck-Wodl, S.; Berry, K.; Bijlsma, E.K.; Bok, L.A.; Brouwer, A.F.J.; Burgt, I. van der; Campeau, P.M.; Canham, N.; Chrzanowska, K.; Chu, Y.W.Y.; Chung, B.H.Y.; Dahan, K.; Rademaeker, M. de; Destree, A.; Dudding-Byth, T.; Earl, R.; Elcioglu, N.; Elias, E.R.; Fagerberg, C.; Gardham, A.; Gener, B.; Gerkes, E.H.; Grasshoff, U.; Haeringen, A. van; Heitink, K.R.; Herkert, J.C.; Hollander, N.S. den; Horn, D.; Hunt, D.; Kant, S.G.; Kato, M.; Kayserili, H.; Kersseboom, R.; Kilic, E.; Krajewska-Walasek, M.; Lammers, K.; Laulund, L.W.; Lederer, D.; Lees, M.; Lopez-Gonzalez, V.; Maas, S.; Mancini, G.M.S.; Marcelis, C.; Martinez, F.; Maystadt, I.; McGuire, M.; McKee, S.; Mehta, S.; Metcalfe, K.; Milunsky, J.; Mizuno, S.; Moeschler, J.B.; Netzer, C.; Ockeloen, C.W.; Oehl-Jaschkowitz, B.; Okamoto, N.; Olminkhof, S.N.M.; Orellana, C.; Pasquier, L.; Pottinger, C.; Riehmer, V.; Robertson, S.P.; Roifman, M.; Rooryck, C.; Ropers, F.G.; Rosello, M.; Ruivenkamp, C.A.L.; Sagiroglu, M.S.; Sallevelt, S.C.E.H.; Calvo, A.S.; Simsek-Kiper, P.O.; Soares, G.; Solaeche, L.; Sonmez, F.M.; Splitt, M.; Steenbeek, D.; Stegmann, A.P.A.; Stumpel, C.T.R.M.; Tanabe, S.; Uctepe, E.; Utine, G.E.; Veenstra-Knol, H.E.; Venkateswaran, S.; Vilain, C.; Vincent-Delorme, C.; Vulto-van Silfhout, A.T.; Wheeler, P.; Wilson, G.N.; Wilson, L.C.; Wollnik, B.; Kosho, T.; Wieczorek, D.; Eichler, E.; Pfundt, R.; Vries, B.B.A. de; Clayton-Smith, J.; Santen, G.W.E.
Genet Med
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO: Repositorio Institucional de Producción Científica
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Genetics in Medicine, 21, 6, pp. 1295-1307
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda,M , Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M , Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M , Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M , Kayserili, H, Kersseboom, R, Kilic, E, Krajewska -Walasek , M , Lammers, K, Laulund, L W, Lederer, D, Lees, M , López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M , McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M , Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M , Rooryck, C, Ropers, F G, Rosello, M , Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M , Splitt, M , Steenbeek, D, Stegmann, A P A, Stumpel, C T R M , Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
Clayton-Smith, J & et al 2018, 'The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome', Genetics in Medicine. https://doi.org/10.1038/s41436-018-0330-z
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO: Repositorio Institucional de Producción Científica
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Genetics in Medicine, 21, 6, pp. 1295-1307
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda,
Clayton-Smith, J & et al 2018, 'The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome', Genetics in Medicine. https://doi.org/10.1038/s41436-018-0330-z
Academic Journal
Aleksandra, Jezela-Stanek; Anna, Siejka; Ewa M, Kowalska; Violetta, Hosiawa; Malgorzata, Krajewska-Walasek
Ginekologia Polska. 91:287-293
Academic Journal
Piekutowska-Abramczuk, Dorota ; Kaliszewska, Magdalena ; Sułek, Anna ; Jurkowska, Natalia ; Ołtarzewski, Mariusz ; Jabłońska, Ewa ; Trubicka, Joanna ; Głowacka, Aleksandra ; Ciara, Elżbieta ; Kowalski, Paweł ; Langiewicz-Wojciechowska, Karolina ; Tesarova, Marketa ; Zeman, Jiri ; Kierdaszuk, Biruta ; Kuczyński, Dariusz ; Chmielewski, Dariusz ; Szymańska, Edyta ; Bakuła, Agnieszka ; Łusakowska, Anna ; Lipowska, Marta ; Brodacki, Bogdan ; Pera, Joanna ; Dorobek, Małgorzata ; Rydzanicz, Małgorzata ; Płoski, Rafał ; Chrzanowska, Krystyna Halina ; Bartnik, Ewa ; Placha, Grzegorz ; Kamińska, Anna ; Kostera-Pruszczyk, Anna ; Krajewska-Walasek, Małgorzata ; Tońska, Katarzyna ; Pronicka, Ewa
In Mitochondrion July 2019 47:179-187
Academic Journal
Olczak-Kowalczyk D; Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097 Warsaw, Poland.; Witt-Porczyk A; Private Dental Practice, Warsaw, Poland.; Piekoszewska-Ziętek P; Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097 Warsaw, Poland.; Krajewska-Walasek M; Department of Medical Genetics, Children's Memorial Health Institute, St. Dzieci Polskich 20, 04-736 Warsaw, Poland.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
Academic Journal
Rokicki, Dariusz ; Pajdowska, Magdalena ; Trubicka, Joanna ; Thong, Meow-Keong ; Ciara, Elżbieta ; Piekutowska-Abramczuk, Dorota ; Pronicki, Maciej ; Sikora, Roman ; Haidar, Rijad ; Ołtarzewski, Mariusz ; Jabłońska, Ewa ; Muthukumarasamy, Premala ; Sthaneswar, Pavai ; Gan, Chin-Seng ; Krajewska-Walasek, Małgorzata ; Carrozzo, Rosalba ; Verrigni, Daniela ; Semeraro, Michela ; Rizzo, Cristiano ; Taurisano, Roberta ; Alhaddad, Bader ; Kovacs-Nagy, Reka ; Haack, Tobias B. ; Dionisi-Vici, Carlo ; Pronicka, Ewa ; Wortmann, Saskia B.
In Clinica Chimica Acta August 2017 471:95-100
Academic Journal
P. Gawliński; M. Pelc; E. Ciara; S. Jhangiani; E. Jurkiewicz; T. Gambin; A. Różdżyńska‐Świątkowska; M. Dawidziuk; Z.H. Coban‐Akdemir; D.L. Guilbride; D. Muzny; J.R. Lupski; M. Krajewska‐Walasek
Clinical Genetics. 93:919-924
Academic Journal
Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R
Brioude, F, Kalish, J M , Mussa, A, Foster, A C, Bliek, J, Ferrero, G B, Boonen, S E, Cole, T, Baker, R, Bertoletti, M , Cocchi, G, Coze, C, De Pellegrin, M , Hussain, K, Ibrahim, A, Kilby, M D, Krajewska -Walasek , M , Kratz, C P, Ladusans, E J, Lapunzina, P, Le Bouc, Y, Maas, S M , Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, R C, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, D J G, Riccio, A & Maher, E R 2018, ' Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement ', Nature Reviews Endocrinology, vol. 14, pp. 229-249 . https://doi.org/10.1038/nrendo.2017.166
Academic Journal
Wieczorek D; Bögershausen N; Beleggia F; Steiner Haldenstätt S; Pohl E; Li Y; Milz E; Martin M; Thiele H; Altmüller J; Alanay Y; Kayserili H; Klein Hitpass L; Böhringer S; Wollstein A; Albrecht B; Boduroglu K; Caliebe A; Chrzanowska K; Cogulu O; Cristofoli F; Czeschik JC; Devriendt K; DOTTI, MARIA; Elcioglu N; Gener B; Goecke TO; Krajewska Walasek M; Guillén Navarro E; Hayek J; Houge G; Kilic E; Simsek Kiper PO; López González V; Kuechler A; Lyonnet S; MARI, FRANCESCA; Marozza A; Mathieu Dramard M; Mikat B; Morin G; Morice Picard F; Ozkynay F; Rauch A; RENIERI, ALESSANDRA; Tinschert S; Utine GE; Vilain C; Vivarelli R; Zweier C; Nürnberg P; Rahmann S; Vermeesch J; Lüdecke HJ; Zeschnigk M; Wollnik B.
Human Molecular Genetics. 22:5121-5135
Academic Journal
Ciara, E. ; Rokicki, D. ; Halat, P. ; Karkucińska-Więckowska, A. ; Piekutowska-Abramczuk, D. ; Mayr, J. ; Trubicka, J. ; Szymańska-Dębińska, T. ; Pronicki, M. ; Pajdowska, M. ; Dudzińska, M. ; Giżewska, M. ; Krajewska-Walasek, M. ; Książyk, J. ; Sperl, W. ; Płoski, R. ; Pronicka, E.
In Molecular Genetics and Metabolism Reports June 2016 7:70-76
Academic Journal
Sousa S. B.; Hennekam R. C.; Abdul-Rahman O.; Alders M.; Azzarello-Burri S.; Bottani A.; Bowdin S.; Castori M.; Cormier-Daire V.; Deardorff M.; Del Campo Casanelles M.; Devriendt K.; Fauth C.; Filges I.; Fryer A.; Garavelli L.; Gillessen-Kaesback G.; Hall B.; Hirofumi O.; Holder S.; Hoyer J.; Jenkins L.; Klapeki J.; Krajewska-Walasek M.; Kosho T.; Kuechler A.; MacDermot K.; Magee A.; Mari F.; Mathieu-Dramard M.; Napier M.; Perez-Jurado L. A.; Picard F. M.; Morin G.; Murday V.; Pilch J.; Ronan A.; Rosser E.; Santen G. W. E.; Scott R.; Selicorni A.; Shannon N.; Santos-Simarro F.; Stewart H.; van den Boogaard M. -J.; Vilain C.; Vermeesch J.; Vogels A.; Wakeling E.; Wieczorek D.; Yesil G.; Zuffardi O.; Zweier C.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 166:302-314
Academic Journal
WITSCH BAUMGARTNER M; SCHWENTNER I; GRUBER M; BENLIAN P; BERTRANPETIT J; BIETH E; CHEVY F; CLUSELLAS N; ESTIVILL X; GASPARINI, PAOLO; GIROS M; KELLEY RI; KRAJEWSKA WALASEK M; MENZEL J; MIETTINEN TA; OGORELKOVA M; ROSSI M; SCALA I; SCHINZEL A; SCHMIDT K; SCHNITZER D; SEEMANOVA E; SPERLING K; SYRROU M; TALMUD P; WOLLNIK B; KRAWCZAK M; LABUDA D; UTERMANN G.
Journal of Medical Genetics. 45:200-209
Academic Journal
J. K. J; B. A. Nowakowska; S. B. Sousa; B. D. C; E. Seuntjens; N. Avonce; A. Sifrim; O. A. Abdul Rahman; M. H. van; A. Bottani; M. Castori; V. Cormier Daire; M. A. Deardorff; I. Filges; A. Fryer; J. Fryns; S. Gana; L. Garavelli; G. Gillessen Kaesbach; B. D. Hall; D. Horn; D. Huylebroeck; J. Klapecki; M. Krajewska Walasek; A. Kuechler; M. A. Lines; S. Maas; K. D. Macdermot; S. McKee; A. Magee; S. A. de; Y. Moreau; F. Morice Picard; E. Obersztyn; J. Pilch; E. Rosser; N. Shannon; I. Stolte Dijkstra; P. V. Dijck; C. Vilain; A. Vogels; E. Wakeling; D. Wieczorek; L. Wilson; A. H. C; K. Devriendt; R. Hennekam; J. R. Vermeesch; ZUFFARDI, ORSETTA
Nature Genetics. 44:445-449
Academic Journal
van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Wödl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; de Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, H. lya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; López-González, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
van der Sluijs, P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M , Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M , Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, de Rademaeker, M , Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M , Kayserili, H L, Kersseboom, R, Kilic, E, Krajewska -Walasek , M , Lammers, K, Laulund, L W, Lederer, D, Lees, M , López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M , McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M , Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M , Rooryck, C, Ropers, F G, Rosello, M , Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Calvo, A S, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M , Splitt, M , Steenbeek, D, Stegmann, A P A, Stumpel, C T R M , Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, 'Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)', Genetics in Medicine, vol. 21, no. 9, pp. 2160-2161. https://doi.org/10.1038/s41436-018-0368-y
Academic Journal
Journal of Applied Genetics. 62(3):525-525
Academic Journal
Tylki-Szymanska, A.; Acuna Hidalgo, R.; Krajewska-Walasek, M.; Lecka-Ambroziak, A.; Steehouwer, M.; Gilissen, C.F.; Brunner, H.G.; Jurecka, A.; Rozdzynska-Swiatkowska, A.; Hoischen, A.; Chrzanowska, K.H.
Journal of Medical Genetics, 52, 5, pp. 312-6
Academic Journal
Recker F; Zaniew M; Böckenhauer D; Miglietti N; Bökenkamp A; Moczulska A; Rogowska Kalisz A; Laube G; Said Conti V; Kasap Demir B; Niemirska A; Litwin M; Siteń G; Chrzanowska KH; Krajewska Walasek M; Sethi SK; Tasic V; Anglani F; ADDIS, MARIA; Wasilewska A; Szczepańska M; Pawlaczyk K; Sikora P; Ludwig M.
Recker, F, Zaniew, M , Bockenhauer, D, Miglietti, N, Bokenkamp, A, Moczulska, A, Rogowska-Kalisz, A, Laube, G, Said-Conti, V, Kasap-Demir, B, Niemirska, A, Litwin, M , Siten, G, Chrzanowska, K H, Krajewska -Walasek , M , Sethi, S K, Tasic, V, Anglani, F, Addis, M , Wasilewska, A, Szczepanska, M , Pawlaczyk, K, Sikora, P & Ludwig, M 2015, 'Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome', Pediatric Nephrology, vol. 30, no. 6, pp. 931-943. https://doi.org/10.1007/s00467-014-3013-2
Pediatric Nephrology
Pediatric Nephrology
Academic Journal
D, Piekutowska-Abramczuk; M, Pronicki; K, Strawa; A, Karkucińska-Więckowska; T, Szymańska-Dębińska; A, Fidziańska; M R, Więckowski; D, Jurkiewicz; E, Ciara; I, Jankowska; J, Sykut-Cegielska; M, Krajewska-Walasek; R, Płoski; E, Pronicka
Clinical Genetics
검색 결과 제한하기
제한된 항목
[검색어] Krajewska-Walasek, M
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어