학술논문
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'학술논문'
에서 검색결과 50건 | 목록
1~20
Academic Journal
Green, Claire E.; Albaba, Shadi; Sobey, Glenda J.; Bowen, Jessica M.; Donnelly, Deirdre E.; Colombi, Marina; Ritelli, Marco; Melville, Athalie; Ghali, Neeti; van Dijk, Fleur S.; Hobson, Emma; Radley, Jessica A.; Kinning, Esther; Dixit, Abhijit; McCullough, Simon; Baker, Duncan; Johnson, Diana S.
European Journal of Human Genetics. 33(10):1309-1315
Academic Journal
Bowen, Jessica M.; Hernandez, Monica; Johnson, Diana S.; Green, Claire; Kammin, Tammy; Baker, Duncan; Keigwin, Sylvia; Makino, Seiko; Taylor, Naomi; Watson, Oliver; Wheeldon, Nigel M.; Sobey, Glenda J.
European Journal of Human Genetics. 31(7):749-760
Academic Journal
Ghali, Neeti; Angwin, Chloe; Liebert, Samuel; Deaner, Andrew; von Klemperer, Katherine; Wheeldon, Nigel; Johnson, Diana; Sobey, Glenda; Samani, Nilesh J.; Webb, Tom R.; Baranowska, Ania; Velvet, Anju; Keigwin, Sylvia; Baker, Duncan; Read, Katherine; van Dijk, Fleur Stephanie; Adlam, David
European Journal of Human Genetics. :1-13
Academic Journal
Bowen, Jessica M.; Sobey, Glenda J.; Burrows, Nigel P.; COLOMBI, Marina; Lavallee, Mark E.; Malfait, Fransiska; Francomano, Clair A.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175:27-39
Academic Journal
Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; COLOMBI, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul Kristensen, Birgit; Kapferer Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E.; Levy, Howard; Mendoza Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J.; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad
American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26
Malfait, F, Francomano, C, Byers, P H, Belmont,J , Berglund, B, Black, J , Bloom, L, Bowen, J M, Brady, A F, Burrows, N P, Castori, M, Cohen, H, Colombi, M, Demirdas, S, De Backer, J , De Paepe, A, Fournel-Gigleux, S, Frank, M, Ghali, N, Giunta, C, Grahame, R, Hakim, A, Jeunemaitre, X, Johnson, D, Juul-Kristensen, B, Kapferer-Seebacher, I, Kazkaz, H, Kosho, T, Lavallee, M E, Levy, H, Mendoza-Londono, R, Pepin, M, Pope, F M, Reinstein, E, Robert, L, Rohrbach, M, Sanders, L, Sobey , G J , Van Damme, T, Vandersteen, A, van Mourik, C, Voermans, N, Wheeldon, N, Zschocke, J & Tinkle, B 2017, ' The 2017 international classification of the Ehlers-Danlos syndromes ', American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, vol. 175, no. 1, pp. 8-26 . https://doi.org/10.1002/ajmg.c.31552
Malfait, F, Francomano, C, Byers, P H, Belmont,
Academic Journal
The Lancet Rheumatology.
Academic Journal
Verstraeten, Aline; Perik, Melanie H.A.M.; Baranowska, Anna A.; Meester, Josephina A.N.; Van Den Heuvel, Lotte; Bastianen, Jarl; Kempers, Marlies; Krapels, Ingrid P.C.; Maas, Angela; Rideout, Andrea; Vandersteen, Anthony; Sobey, Glenda; Johnson, Diana; Fransen, Erik; Ghali, Neeti; Webb, Tom; Al-Hussaini, Abtehale; de Leeuw, Peter; Delmotte, Philippe; Lopez-Sublet, Marilucy; Pappaccogli, Marco; Sprynger, Muriel; Toubiana, Laurent; Van Laer, Lut; Van Dijk, Fleur S.; Vikkula, Miikka; Samani, Nilesh J.; Persu, Alexandre; Adlam, David; Loeys, Bart; Beauloye, Christophe; Chenu, Patrick; Hammer, Frank; Goffette, Pierre; Astarci, Parla; Peeters, André; Verhelst, Robert; Van der Niepen, Patricia; Van Tussenbroek, Frank; De Backer, Tine; Gevaert, Sofie; Hemelsoet, Dimitri; Defreyne, Luc; Heuten, Hilde; Yperzeele, Laetitia; Van der Zijden, Thijs; Lengelé, Jean-Philippe; Krzesinski, Jean-Marie; Verhamme, Peter; Vanassche, Thomas; Scoppettuolo, Pasquale; Wautrecht, Jean-Claude; Jelaković, Bojan; Dika, Zivka; Maria Bruno, Rosa; Taddei, Stefano; Romanini, Caterina; Petrucci, Ilaria; Rabbia, Franco; Di Monaco, Silvia; Paolo Rossi, Gian; Lerco, Silvia; Minuz, Pietro; Mansueto, Giancarlo; De Marchi, Sergio; Marcon, Denise; Kroon, Bram; Spiering, Wilko; van den Born, Bert-Jan; Poch, Esteban; Montagud-Marrahi, Enrique; Molina, Alicia; Guillen, Elena; Burrel, Marta; Wuerzner, Gregor; Mazzolai, Lucia; Buso, Giacomo; European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), [missing]
Circulation, 142, 10, pp. 1021-1024
Circulation, Vol. 142, no. 10, p. 1021-1024 (2020)
Circulation
CIRCULATION
Circulation, Vol. 142, no. 10, p. 1021-1024 (2020)
Circulation
CIRCULATION
Academic Journal
European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI); Verstraeten, Aline; Perik, Melanie H A M; Baranowska, Anna A; Meester, Josephina A N; Van Den Heuvel, Lotte; Bastianen, Jarl; Kempers, Marlies; Krapels, Ingrid P C; Maas, Angela; Rideout, Andrea; Vandersteen, Anthony; Sobey, Glenda; Johnson, Diana; Fransen, Erik; Ghali, Neeti; Webb, Tom; Al-Hussaini, Abtehale; De Leeuw, Peter; Delmotte, Philippe; Lopez-Sublet, Marilucy; Pappaccogli, Marco; Sprynger, Muriel; Toubiana, Laurent; Van Laer, Lut; Van Dijk, Fleur S; Vikkula, Miikka; Samani, Nilesh J; Persu, Alexandre; Adlam, David; Loeys, Bart
Academic Journal
Meena, Balasubramanian; Bart E, Wagner; Luiz C, Peres; Glenda J, Sobey; Michael J, Parker; Ann, Dalton; Paul, Arundel; Nicholas J, Bishop
Clinical Dysmorphology. 24:45-54
A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis
Academic Journal
Meena Balasubramanian; Ana Terron-Kwiatkowski; Manu Shah; Bart E Wagner; Dot Mechan; David Baty; Glenda J Sobey
Expert Review of Dermatology. 5:519-523
Academic Journal
Tinkle, Brad T.; Malfait, Fransiska; Francomano, Clair A.; Byers, Peter H.; Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M.; Brady, Angela F.; Burrows, Nigel P.; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel‐Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul‐Kristensen, Birgit; Kapferer‐Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E.; Levy, Howard; Mendoza‐Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J.; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Mar 01, 2017 175(1):8-26
Academic Journal
Tinkle, Brad T.; Malfait, Fransiska; Francomano, Clair A.; Byers, Peter H.; Bowen, Jessica M.; Sobey, Glenda J.; Burrows, Nigel P.; Colombi, Marina; Lavallee, Mark E.; Malfait, Fransiska; Francomano, Clair A.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Mar 01, 2017 175(1):27-39
Academic Journal
Pediatric Dermatology. March-April, 2007, Vol. 24 Issue 2, p144, 3 p.
Academic Journal
Pediatric Dermatology. 24:144-146
Academic Journal
Mari Minatogawa; Ai Unzaki; Hiroko Morisaki; Delfien Syx; Tohru Sonoda; Andreas R Janecke; Anne Slavotinek; Nicol C Voermans; Yves Lacassie; Roberto Mendoza-Londono; Klaas J Wierenga; Parul Jayakar; William A Gahl; Cynthia J Tifft; Luis E Figuera; Yvonne Hilhorst-Hofstee; Alessandra Maugeri; Ken Ishikawa; Tomoko Kobayashi; Yoko Aoki; Toshihiro Ohura; Hiroshi Kawame; Michihiro Kono; Kosuke Mochida; Chiho Tokorodani; Kiyoshi Kikkawa; Takayuki Morisaki; Tetsuyuki Kobayashi; Takaya Nakane; Akiharu Kubo; Judith D Ranells; Ohsuke Migita; Glenda Sobey; Anupriya Kaur; Masumi Ishikawa; Tomomi Yamaguchi; Naomichi Matsumoto; Fransiska Malfait; Noriko Miyake; Tomoki Kosho
Minatogawa, M, Unzaki, A, Morisaki, H, Syx, D, Sonoda, T, Janecke, A R, Slavotinek, A, Voermans, N C, Lacassie, Y, Mendoza-Londono, R, Wierenga, K
Journal of Medical Genetics, 59, 9, pp. 865-877
Academic Journal
Clinical Dysmorphology. 17:99-107
A novel homozygous keratin 10 mutation in siblings with autosomal recessive epidermolytic ichthyosis
Academic Journal
Balasubramanian, Meena; Terron-Kwiatkowski, Ana; Shah, Manu; Wagner, Bart E; Mechan, Dot; Baty, David; Sobey, Glenda J
Expert Review of Dermatology. Oct 01, 2010 5(5):519-523
Academic Journal
Pollitt, Rebecca C.; Saraff, Vrinda; Dalton, Ann; Webb, Emma A.; Shaw, Nick J.; Sobey, Glenda J.; Mughal, M. Zulf; Hobson, Emma; Ali, Farhan; Bishop, Nicholas J.; Arundel, Paul; Hogler, Wolfgang; Balasubramanian, Meena
Academic Journal
Academic Journal
Schirwani, Schaida; van Dijk, Fleur S.; Cauldwell, Matthew; Harrison, Rachel E.; Kraus, Alison; Brennan, Paul; Ghali, Neeti; Lahiri, Nayana; Johnson, Diana; Sobey, Glenda
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제한된 항목
[검색어] Sobey, Glenda J.
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