Your search returned 67 results.

Results
	21.	MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. [electronic resource] by Sodi, Andrea Mariottini, Alessandro Passerini, Ilaria Murro, Vittoria Tachyla, Iryna Bianchi, Benedetta Menchini, Ugo Torricelli, Francesca Producer: 20151208 In: Molecular vision vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	22.	Identification of seven novel mutations of F8C by DHPLC. [electronic resource] by Frusconi, Sabrina Passerini, Ilaria Girolami, Francesca Masieri, Maddalena Linari, Silvia Longo, Giovanni Morfini, Massimo Torricelli, Francesca Producer: 20021112 In: Human mutation vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	[Clinical relevance of genetic testing in hypertrophic cardiomyopathy]. [electronic resource] by Girolami, Francesca Bardi, Sara Berti, Laura Cecchi, Franco Servettini, Eleonora Tomberli, Benedetta Torricelli, Francesca Olivotto, Iacopo Producer: 20120410 In: Recenti progressi in medicina vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Utility of droplet digital PCR for the quantitative detection of polyomavirus JC in clinical samples. [electronic resource] by Giovannelli, Irene Ciccone, Nunziata Vaggelli, Guendalina Malva, Nunzia Della Torricelli, Francesca Rossolini, Gian Maria Giannecchini, Simone Producer: 20180102 In: Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	A very fast and accurate method for calling aberrations in array-CGH data. [electronic resource] by Benelli, Matteo Marseglia, Giuseppina Nannetti, Genni Paravidino, Roberta Zara, Federico Bricarelli, Franca Dagna Torricelli, Francesca Magi, Alberto Producer: 20100916 In: Biostatistics (Oxford, England) vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathy. [electronic resource] by Olivotto, Iacopo Cecchi, Franco Gistri, Roberto Lorenzoni, Roberto Chiriatti, Giampaolo Girolami, Francesca Torricelli, Francesca Camici, Paolo G Producer: 20060517 In: Journal of the American College of Cardiology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Th2-oriented profile of male offspring T cells present in women with systemic sclerosis and reactive with maternal major histocompatibility complex antigens. [electronic resource] by Scaletti, Cristina Vultaggio, Alessandra Bonifacio, Stefania Emmi, Lorenzo Torricelli, Francesca Maggi, Enrico Romagnani, Sergio Piccinni, Marie-Pierre Producer: 20020321 In: Arthritis and rheumatism vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Familial amyloid polyneuropathy with genetic anticipation associated to a gly47glu transthyretin variant in an Italian kindred. [electronic resource] by Pelo, Elisabetta Da Prato, Luigi Ciaccheri, Mauro Castelli, Gabriele Gori, Franca Pizzi, Assunta Torricelli, Francesca Marconi, Giampiero Producer: 20021030 In: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	BEST1 sequence variants in Italian patients with vitelliform macular dystrophy. [electronic resource] by Sodi, Andrea Passerini, Ilaria Murro, Vittoria Caputo, Roberto Bacci, Giacomo Maria Bodoj, Mirela Torricelli, Francesca Menchini, Ugo Producer: 20130514 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	30.	Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. [electronic resource] by Castori, Marco Silvestri, Evelina Pedace, Lucia Marseglia, Giuseppina Tempera, Alessia Antigoni, Ivana Torricelli, Francesca Majore, Silvia Grammatico, Paola 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)
	31.	Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale. [electronic resource] by Frusconi, Sabrina Giusti, Betti Rossi, Luciana Bernabini, Sara Poggi, Filippo Giotti, Irene Abbate, Rosanna Pepe, Guglielmina Torricelli, Francesca Producer: 20040428 In: Clinical chemistry vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. [electronic resource] by Gerundino, Francesca Marseglia, Guiseppina Pescucci, Chiara Pelo, Elisabetta Benelli, Matteo Giachini, Claudia Federighi, Benedetta Antonelli, Carla Torricelli, Francesca Producer: 20150724 In: European journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray data. [electronic resource] by Blangiardo, Marta Toti, Simona Giusti, Betti Abbate, Rosanna Magi, Alberto Poggi, Filippo Rossi, Luciana Torricelli, Francesca Biggeri, Annibale Producer: 20060517 In: Bioinformatics (Oxford, England) vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	A new ATTR Phe64Ile mutation with late-onset multiorgan involvement. [electronic resource] by Tarquini, Roberto Perfetto, Federico Bergesio, Franco Miliani, Anna Del Pace, Stefano Frusconi, Sabrina Minuti, Barbara Pelo, Elisabetta Torricelli, Francesca Producer: 20080414 In: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	EX-HOM (EXome HOMozygosity): a proof of principle. [electronic resource] by Pippucci, Tommaso Benelli, Matteo Magi, Alberto Martelli, Pier Luigi Magini, Pamela Torricelli, Francesca Casadio, Rita Seri, Marco Romeo, Giovanni Producer: 20120126 In: Human heredity vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure. [electronic resource] by Corre, Tanguy Schuettler, Julia Bione, Silvia Marozzi, Anna Persani, Luca Rossetti, Raffaella Torricelli, Francesca Giotti, Irene Vogt, Peter Toniolo, Daniela Producer: 20090917 In: Human reproduction (Oxford, England) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Draft Genome Sequence of Proteus mirabilis NO-051/03, Representative of a Multidrug-Resistant Clone Spreading in Europe and Expressing the CMY-16 AmpC-Type β-Lactamase. [electronic resource] by D'Andrea, Marco Maria Giani, Tommaso Henrici De Angelis, Lucia Ciacci, Nagaia Gniadkowski, Marek Miriagou, Vivi Torricelli, Francesca Rossolini, Gian Maria Producer: 20160212 In: Genome announcements vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. [electronic resource] by Girolami, Francesca Olivotto, Iacopo Passerini, Ilaria Zachara, Elisabetta Nistri, Stefano Re, Federica Fantini, Silvia Baldini, Katia Torricelli, Francesca Cecchi, Franco Producer: 20061207 In: Journal of cardiovascular medicine (Hagerstown, Md.) vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. [electronic resource] by Marseglia, Giuseppina Scordo, Maria Rosaria Pescucci, Chiara Nannetti, Genni Biagini, Elisabetta Scandurra, Valeria Gerundino, Francesca Magi, Alberto Benelli, Matteo Torricelli, Francesca Producer: 20120724 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)
	40.	Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease. [electronic resource] by Tomberli, Benedetta Cecchi, Franco Sciagrà, Roberto Berti, Valentina Lisi, Francesca Torricelli, Francesca Morrone, Amelia Castelli, Gabriele Yacoub, Magdi H Olivotto, Iacopo Producer: 20140721 In: European journal of heart failure vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 67 results.