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	1.	A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb. [electronic resource] by Pollazzon, M Grosso, S Papa, F T Katzaki, E Marozza, A Mencarelli, M A Uliana, V Balestri, P Mari, F Renieri, A Producer: 20090901 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. [electronic resource] by Maini, I Farnetti, E Caraffi, S G Ivanovski, I De Bernardi, M L Gelmini, C Pollazzon, M Rosato, S Laurie, S Matalonga, L Baldo, C Garavelli, L Producer: 20191008 In: Neuropediatrics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. [electronic resource] by Maini, I Ivanovski, I Djuric, O Caraffi, S G Errichiello, E Marinelli, M Franchi, F Bizzarri, V Rosato, S Pollazzon, M Gelmini, C Malacarne, M Fusco, C Gargano, G Bernasconi, S Zuffardi, O Garavelli, L Producer: 20181017 In: Italian journal of pediatrics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Early-onset seizure variant of Rett syndrome: definition of the clinical diagnostic criteria. [electronic resource] by Artuso, R Mencarelli, M A Polli, R Sartori, S Ariani, F Pollazzon, M Marozza, A Cilio, M R Specchio, N Vigevano, F Vecchi, M Boniver, C Dalla Bernardina, B Parmeggiani, A Buoni, S Hayek, G Mari, F Renieri, A Murgia, A Producer: 20100408 In: Brain & development vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation. [electronic resource] by Bijlsma, E K Collins, A Papa, F T Tejada, M I Wheeler, P Peeters, E A J Gijsbers, A C J van de Kamp, J M Kriek, M Losekoot, M Broekma, A J Crolla, J A Pollazzon, M Mucciolo, M Katzaki, E Disciglio, V Ferreri, M I Marozza, A Mencarelli, M A Castagnini, C Dosa, L Ariani, F Mari, F Canitano, R Hayek, G Botella, M P Gener, B Mínguez, M Renieri, A Ruivenkamp, C A L Producer: 20121009 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Expanding CEP290 mutational spectrum in ciliopathies. [electronic resource] by Travaglini, Lorena Brancati, Francesco Attie-Bitach, Tania Audollent, Sophie Bertini, Enrico Kaplan, Josseline Perrault, Isabelle Iannicelli, Miriam Mancuso, Brunella Rigoli, Luciana Rozet, Jean-Michel Swistun, Dominika Tolentino, Jerlyn Dallapiccola, Bruno Gleeson, Joseph G Valente, Enza Maria Zankl, A Leventer, R Grattan-Smith, P Janecke, A D'Hooghe, M Sznajer, Y Van Coster, R Demerleir, L Dias, K Moco, C Moreira, A Kim, C Ae Maegawa, G Petkovic, D Abdel-Salam, G M H Abdel-Aleem, A Zaki, M S Marti, I Quijano-Roy, S Sigaudy, S de Lonlay, P Romano, S Touraine, R Koenig, M Lagier-Tourenne, C Messer, J Collignon, P Wolf, N Philippi, H Kitsiou Tzeli, S Halldorsson, S Johannsdottir, J Ludvigsson, P Phadke, S R Udani, V Stuart, B Magee, A Lev, D Michelson, M Ben-Zeev, B Fischetto, R Benedicenti, F Stanzial, F Borgatti, R Accorsi, P Battaglia, S Fazzi, E Giordano, L Pinelli, L Boccone, L Bigoni, S Ferlini, A Donati, M A Caridi, G Divizia, M T Faravelli, F Ghiggeri, G Pessagno, A Briguglio, M Briuglia, S Salpietro, C D Tortorella, G Adami, A Castorina, P Lalatta, F Marra, G Riva, D Scelsa, B Spaccini, L Uziel, G Del Giudice, E Laverda, A M Ludwig, K Permunian, A Suppiej, A Signorini, S Uggetti, C Battini, R Di Giacomo, M Cilio, M R Di Sabato, M L Leuzzi, V Parisi, P Pollazzon, M Silengo, M De Vescovi, R Greco, D Romano, C Cazzagon, M Simonati, A Al-Tawari, A A Bastaki, L Mégarbané, A Sabolic Avramovska, V de Jong, M M Stromme, P Koul, R Rajab, A Azam, M Barbot, C Martorell Sampol, L Rodriguez, B Pascual-Castroviejo, I Teber, S Anlar, B Comu, S Karaca, E Kayserili, H Yüksel, A Akcakus, M Al Gazali, L Sztriha, L Nicholl, D Woods, C G Bennett, C Hurst, J Sheridan, E Barnicoat, A Hennekam, R Lees, M Blair, E Bernes, S Sanchez, H Clark, A E DeMarco, E Donahue, C Sherr, E Hahn, J Sanger, T D Gallager, T E Dobyns, W B Daugherty, C Krishnamoorthy, K S Sarco, D Walsh, C A McKanna, T Milisa, J Chung, W K De Vivo, D C Raynes, H Schubert, R Seward, A Brooks, D G Goldstein, A Caldwell, J Finsecke, E Maria, B L Holden, K Cruse, R P Swoboda, K J Viskochil, D Producer: 20091217 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)