학술논문
'학술논문'
에서 검색결과 106건 | 목록
1~10
Academic Journal
Lionel, AC; Tammimies, K; Vaags, AK; Rosenfeld, JA; Ahn, JW; Merico, D; Noor, A; Runke, CK; Pillalamarri, VK; Carter, MT; Gazzellone, MJ; Thiruvahindrapuram, B; Fagerberg, C; Laulund, LW; Pellecchia, G; Lamoureux, S; Deshpande, C; Clayton-Smith, J; White, AC; Leather, S; Trounce, J; Bedford, HM; Hatchwell, E; Eis, PS; Yuen, RKC; Walker, S; Uddin, M; Geraghty, MT; Nikkel, SM; Tomiak, EM; Fernandez, BA; Soreni, N; Crosbie, J; Arnold, PD; Schachar, RJ; Roberts, W; Paterson, AD; So, J; Szatmari, P; Chrysler, C; Woodbury-Smith, M; Lowry, RB; Zwaigenbaum, L; Mandyam, D; Wei, J; MacDonald, JR; Howe, JL; Nalpathamkalam, T; Wang, ZZ; Tolson, D; Cobb, DS; Wilks, TM; Sorensen, MJ; Bader, PI; An, Y; Wu, BL; Musumeci, SA; Romano, C; Postorivo, D; Nardone, AM; Della Monica, M; Scarano, G; Zoccante, L; Novara, F; Zuffardi, O; Ciccone, R; Antona, V; Carella, M; Zelante, L; Cavalli, P; Poggiani, C; Cavallari, U; Argiropoulos, B; Chernos, J; Brasch-Andersen, C; Speevak, M; Fichera, M; Ogilvie, CM; Shen, YP; Hodge, JC; Talkowski, ME; Stavropoulos, DJ; Marshall, CR; Scherer, SW
Human molecular genetics. 23(10):2752-2768
Academic Journal
Lopez-Atalaya, J P; Gervasini, C; Mottadelli, F; Spena, S; Piccione, M; Scarano, G; Selicorni, A; Barco, A; Larizza, L
Journal of Medical Genetics. Jan 01, 2012 49(1):66-74
Academic Journal
Selicorni, A; Russo, S; Gervasini, C; Castronovo, P; Milani, D; Cavalleri, F; Bentivegna, A; Masciadri, M; Domi, A; Divizia, M T; Sforzini, C; Tarantino, E; Memo, L; Scarano, G; Larizza, L
Clinical Genetics. Aug 01, 2007 72(2):98-108
Academic Journal
Wilcken, B; Bamforth, F; Li, Z; Zhu, H; Ritvanen, A; Redlund, M; Stoll, C; Alembik, Y; Dott, B; Czeizel, A E; Gelman-Kohan, Z; Scarano, G; Bianca, S; Ettore, G; Tenconi, R; Bellato, S; Scala, I; Mutchinick, O M; López, M A; de Walle, H; Hofstra, R; Joutchenko, L; Kavteladze, L; Bermejo, E; Martínez-Frías, M L; Gallagher, M; Erickson, J D; Vollset, S E; Mastroiacovo, P; Andria, G; Botto, L D
JOURNAL OF MEDICAL GENETICS. Aug 01, 2003 40(8):619-625
Academic Journal
Stuppia, L; Calabrese, G; Gatta, V; Pintor, S; Morizio, E; Fantasia, D; Guanciali Franchi, P; Rinaldi, M M; Scarano, G; Concolino, D; Giannotti, A; Petreschi, F; Anzellotti, M T; Pomilio, M; Chiarelli, F; Tumini, S; Palka, G
Journal of Medical Genetics. Feb 01, 2003 40(2):e11-e11
Electronic Resource
Ivanovski, I; Djuric, O; Caraffi, SG; Santodirocco, D; Pollazzon, M; Rosato, S; Cordelli, D M; Abdalla, E; Accorsi, P; Adam, MP; Ajmone, PF; Badura-Stronka, M; Baldo, C; Baldi, M; Bayat, A; Bigoni, S; Bonvicini, F; Breckpot, J; Callewaert, B; Cocchi, G; Cuturilo, G; De Brasi, D; DeVriendt, K; Dinulos, MB; Hjortshoj, TD; Epifanio, R; Faravelli, F; Fiumara, A; Formisano, D; Giordano, L; Grasso, M; Gronborg, S; Iodice, A; Iughetti, L; Kuburovic, V; Kutkowska-Kazmierczak, A; Lacombe, D; Lo Rizzo, C; Luchetti, A; Malbora, B; Mammi, I; Mari, F; Montorsi, G; Moutton, S; Moller, RS; Muschke, P; Nielsen, JEK; Obersztyn, E; Pantaleoni, C; Pellicciari, A; Pisanti, MA; Prpic, I; Poch-Olive, ML; Raviglione, F; Renieri, A; Ricci, E; Rivieri, F; Santen, GW; Savasta, S; Scarano, G; Schanze, I; Selicorni, A; Silengo, M; Smigiel, R; Spaccini, L; Sorge, G; Szczaluba, K; Tarani, L; Tone, LG; Toutain, A; Trimouille, A; Valera, ET; Vergano, SS; Zanotta, N; Zenker, M; Conidi, Andrea; Zollino, M; Rauch, A; Zweier, C; Garavelli, L
Ivanovski , I , Djuric , O , Caraffi , SG , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , MP , Ajmone , PF , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , DeVriendt , K , Dinulos , MB , Hjortshoj , TD , Epifanio , R , Faravelli , F , Fiumara , A , Formisano , D , Giordano , L , Grasso , M , Gronborg , S , Iodice , A , Iughetti , L , Kuburovic , V , Kutkowska-Kazmierczak , A , Lacombe , D , Lo Rizzo , C , Luchetti , A , Malbora , B , Mammi , I , Mari , F , Montorsi , G , Moutton , S , Moller , RS , Muschke , P , Nielsen , JEK , Obersztyn , E , Pantaleoni , C , Pellicciari , A , Pisanti , MA , Prpic , I , Poch-Olive , ML , Raviglione , F , Renieri , A , Ricci , E , Rivieri , F , Santen , GW , Savasta , S , Scarano , G , Schanze , I , Selicorni , A , Silengo , M , Smigiel , R , Spaccini , L , Sorge , G , Szczaluba , K , Tarani , L , Tone , LG , Toutain , A , Trimouille , A , Valera , ET , Vergano , SS , Zanotta , N , Zenker , M , Conidi , A , Zollino , M , Rauch , A , Zweier , C & Garavelli , L 2018 , ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ' , Genetics in Medicine , vol. 20 , no. 9 , pp. 965-975 .
Periodical
Journal of Bacteriology; January 1993, Vol. 175 Issue: 1 p299-302, 4p
Electronic Resource
Marangi, Giuseppe; Ricciardi, Stefania; Orteschi, Daniela; Tenconi, R; Monica, Md; Scarano, G; Battaglia, Domenica Immacolata; Lettori, Donatella; Vasco, Gessica; Zollino, Marcella; Marangi, Giuseppe (ORCID:0000-0002-6898-8882); Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021); Zollino, Marcella (ORCID:0000-0003-4871-9519)
Electronic Resource
Biason-Lauber, Anna; De Filippo, G; Konrad, D; https://orcid.org/0000-0001-9067-4356; Scarano, G; Nazzaro, A; Schoenle, E J
Biason-Lauber, Anna; De Filippo, G; Konrad, D; Scarano, G ; Nazzaro, A; Schoenle, E J (2007). WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report. Human Reproduction, 22(1):224-229.
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