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	1.	Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)(0)-thalassemia. [electronic resource] by Cardiero, Giovanna Prezioso, Romeo Dembech, Sabrina Del Vecchio Blanco, Francesca Scarano, Clelia Lacerra, Giuseppina Producer: 20170303 In: Hematology (Amsterdam, Netherlands) vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. [electronic resource] by Giugliano, Teresa Santoro, Claudia Torella, Annalaura Del Vecchio Blanco, Francesca Bernardo, Pia Nigro, Vincenzo Piluso, Giulio Producer: 20190228 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. [electronic resource] by Torella, Annalaura Fanin, Marina Mutarelli, Margherita Peterle, Enrico Del Vecchio Blanco, Francesca Rispoli, Rossella Savarese, Marco Garofalo, Arcomaria Piluso, Giulio Morandi, Lucia Ricci, Giulia Siciliano, Gabriele Angelini, Corrado Nigro, Vincenzo Producer: 20131217 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders. [electronic resource] by Piluso, Giulio Dionisi, Manuela Del Vecchio Blanco, Francesca Torella, Annalaura Aurino, Stefania Savarese, Marco Giugliano, Teresa Bertini, Enrico Terracciano, Alessandra Vainzof, Mariz Criscuolo, Chiara Politano, Luisa Casali, Carlo Santorelli, Filippo Maria Nigro, Vincenzo Producer: 20111215 In: Clinical chemistry vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. [electronic resource] by Giugliano, Teresa Santoro, Claudia Torella, Annalaura Del Vecchio Blanco, Francesca Grandone, Anna Onore, Maria Elena Melone, Mariarosa Anna Beatrice Straccia, Giulia Melis, Daniela Piccolo, Vincenzo Limongelli, Giuseppe Buono, Salvatore Perrotta, Silverio Nigro, Vincenzo Piluso, Giulio Producer: 20200109 In: Genes vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short Stature. [electronic resource] by Grandone, Anna Del Vecchio Blanco, Francesca Torella, Annalaura Caruso, Manuela De Luca, Filippo Di Mase, Raffaella Messina, Maria Francesca Salerno, Maria Carolina Sallemi, Alessia Perone, Lucia Marzuillo, Pierluigi Miraglia Del Giudice, Emanuele Nigro, Vincenzo Perrone, Laura Producer: 20170417 In: Hormone research in paediatrics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. [electronic resource] by Savarese, Marco Di Fruscio, Giuseppina Torella, Annalaura Fiorillo, Chiara Magri, Francesca Fanin, Marina Ruggiero, Lucia Ricci, Giulia Astrea, Guja Passamano, Luigia Ruggieri, Alessandra Ronchi, Dario Tasca, Giorgio D'Amico, Adele Janssens, Sandra Farina, Olimpia Mutarelli, Margherita Marwah, Veer Singh Garofalo, Arcomaria Giugliano, Teresa Sampaolo, Simone Del Vecchio Blanco, Francesca Esposito, Gaia Piluso, Giulio D'Ambrosio, Paola Petillo, Roberta Musumeci, Olimpia Rodolico, Carmelo Messina, Sonia Evilä, Anni Hackman, Peter Filosto, Massimiliano Di Iorio, Giuseppe Siciliano, Gabriele Mora, Marina Maggi, Lorenzo Minetti, Carlo Sacconi, Sabrina Santoro, Lucio Claes, Kathleen Vercelli, Liliana Mongini, Tiziana Ricci, Enzo Gualandi, Francesca Tupler, Rossella De Bleecker, Jan Udd, Bjarne Toscano, Antonio Moggio, Maurizio Pegoraro, Elena Bertini, Enrico Mercuri, Eugenio Angelini, Corrado Santorelli, Filippo Maria Politano, Luisa Bruno, Claudio Comi, Giacomo Pietro Nigro, Vincenzo Producer: 20170505 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)