학술논문
'학술논문'
에서 검색결과 111건 | 목록
1~10
Academic Journal
In Gait & Posture 2010 32(4):536-539
Academic Journal
Forde, K.; Irvine, A.D.; Dvorakova, V.; Resta, N.; Ranieri, C.; Rea, D.; Kubassova, O.; Hinton, M.; Andrews, K.A.; Semple, R.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2021, 16(1))
755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
Academic Journal
Polubothu, S.; Al-Olabi, L.; Dowsett, K.; Andrews, K.; Stadnik, P.; Knox, R.; Baird, W.; Glover, M.; Moss, C.; Thomas, A.; Biesecker, L.; Semple, R.; Patton, E.; Kinsler, V.
In Journal of Investigative Dermatology May 2018 138(5) Supplement:S128-S128
Academic Journal
Deiss, K.; Lockwood, N.; Segeren, H.A.; Soliman, T.N.; Martini, S.; Parker, P.J.; Howell, M.; Saunders, R.E.; Chakravarty, P.; Rocha, N.; Semple, R.; Zalmas, L.-P.
In: Nucleic Acids Research . (Nucleic Acids Research, 8 April 2019, 47(6):2906-2921)
Academic Journal
In: Clinical Dysmorphology . (Clinical Dysmorphology, 1 October 2018, 27(4):122-125)
Academic Journal
Innaurato, S.; Brierley, G.V.; Semple, R.; Grasso, V.; Massimi, A.; Sileno, S.; Bernardini, S.; Barbetti, F.; Gaudino, R.
In: Pediatric Diabetes . (Pediatric Diabetes, June 2018, 19(4):670-674)
Academic Journal
Mosbah, H.; Vatier, C.; Vigouroux, C.; Jéru, I.; Akinci, B.; Araújo-Vilar, D.; Carrion Tudela, J.; Perez de Tudela, N.; Ceccarini, G.; Santini, F.; Collas, P.; Farooqi, I.S.; Savage, D.B.; Fernández-Pombo, A.; Karpe, F.; Krause, K.; Miehle, K.; Maffei, M.; Oral, E.; Prieur, X.; Rochford, J.; Sanders, R.; von Schnurbein, J.; Wabitsch, M.; Semple, R.; Stears, A.; Sorkina, E.; Vantyghem, M.-C.; Vidal-Puig, A.
In: Annales d'Endocrinologie . (Annales d'Endocrinologie, December 2022, 83(6):461-468)
Academic Journal
Vabres, P.; Parker, V.; Courcet, J.-B.; St-Onge, J.; Duffourd, Y.; Rodriguez, D.; Mignot, C.; Knox, R.; Boland, A.; Olaso, R.; Delepine, M.; Darmency-Stamboul, V.; Vincent-Delorme, C.; Catteau, B.; Guibaud, L.; Arzimanoglou, A.; Keddar, M.; Callier, P.; Bessis, D.; Geneviève, D.; Deleuze, J.-F.; Semple, R.; Faivre, L.; Rivière, J.-B.
In Annales de dermatologie et de venereologie December 2015 142(12) Supplement:S470-S471
Academic Journal
In: Pediatric Diabetes . (Pediatric Diabetes, December 2017, 18(8):839-843)
Academic Journal
Astuti, D.; Zatyka, M.; Barrett, T.G.; Sabir, A.; Fulton, P.; Williams, D.; Hardy, C.; Milan, G.; Favaretto, F.; Maffei, P.; Yu-Wai-Man, P.; Rohayem, J.; López de Heredia, M.; Nunes, V.; Hershey, T.; Tranebjaerg, L.; Chen, J.-H.; Semple, R.; Chaussenot, A.; Paquis-Flucklinger, V.; Marshall, B.; McAfferty, S.; Tillmann, V.; Geberhiwot, T.; Mlynarski, W.; Parkinson, K.; Picard, V.; Bueno, G.E.; Dias, R.; Arnold, A.; Richens, C.; Paisey, R.; Urano, F.; Sinnott, R.
In: Human Mutation . (Human Mutation, July 2017, 38(7):764-777)
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[AR] Semple, R.
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