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	1.	Chromosome mapping of Miller-Diecker, Smith-Magenis and RARA loci in non-human primates: implications in the evolution of human chromosome 17. [electronic resource] by Sineo, Luca Romagno, Daniela Guarducci, Silvia Lapini, Manuela Giovannucci-Uzielli, Maria Luisa Chiarelli, Brunetto Producer: 20030417 In: Genetica vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Analysis of 13 tetrameric short tandem repeat loci in a population of Tuscany (Central Italy) performed by means of an automated infrared sequencer. [electronic resource] by Ricci, Ugo Sani, Ilaria Giunti, Laura Guarducci, Silvia Coviello, Silvia Giovannucci Uzielli, Maria Luisa Producer: 20020423 In: Forensic science international vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Clinical and molecular cytogenetic studies in ring chromosome 5: report of a child with congenital abnormalities. [electronic resource] by Basinko, Audrey Giovannucci Uzielli, Maria Luisa Scarselli, Gloria Priolo, Manuela Timpani, Giuseppina De Braekeleer, Marc Producer: 20120928 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)
	4.	Identification of forensic samples by using an infrared-based automatic DNA sequencer. [electronic resource] by Ricci, Ugo Sani, Ilaria Klintschar, Michael Cerri, Nicoletta De Ferrari, Francesco Giovannucci Uzielli, Maria Luisa Producer: 20030815 In: Croatian medical journal vol. 44 Availability: No items available. Save to lists Add to cart (remove)
	5.	Thyroid hypoplasia of the left lobe in two girls affected by Williams syndrome. [electronic resource] by Stagi, Stefano Bindi, Giuseppe Neri, Anna Silvia Giovannucci-Uzielli, Maria Luisa Lapi, Elisabetta Galluzzi, Fiorella Salti, Roberto Producer: 20040527 In: Clinical dysmorphology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma. [electronic resource] by Sardi, Iacopo Giunti, Laura Donati, Pierarturo Lacitignola, Laura Tucci, Fabio Sardo, Luigi Giovannucci Uzielli, Maria Luisa Bernini, Gabriella Producer: 20031218 In: Oncology reports vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in the nebulin gene can cause severe congenital nemaline myopathy. [electronic resource] by Wallgren-Pettersson, Carina Donner, Kati Sewry, Caroline Bijlsma, Emilia Lammens, Martin Bushby, Kate Giovannucci Uzielli, Maria Luisa Lapi, Elisabetta Odent, Sylvie Akcoren, Zuhal Topaloğlu, Haluk Pelin, Katarina Producer: 20021213 In: Neuromuscular disorders : NMD vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. [electronic resource] by Gervasini, Cristina Castronovo, Paola Bentivegna, Angela Mottadelli, Federica Faravelli, Francesca Giovannucci-Uzielli, Maria Luisa Pessagno, Alice Lucci-Cordisco, Emanuela Pinto, Anna Maria Salviati, Leonardo Selicorni, Angelo Tenconi, Romano Neri, Giovanni Larizza, Lidia Producer: 20080122 In: Genomics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. [electronic resource] by Ayoub, Sandy Ghali, Neeti Angwin, Chloe Baker, Duncan Baffini, Stella Brady, Angela F Giovannucci Uzielli, Maria Luisa Giunta, Cecilia Johnson, Diana S Kosho, Tomoki Neas, Katherine Pope, F Michael Rutsch, Frank Scarselli, Gloria Sobey, Glenda Vandersteen, Anthony van Dijk, Fleur S Producer: 20210112 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism. [electronic resource] by Murakami, Tomoko Hosomi, Naoko Oiso, Naoki Giovannucci-Uzielli, Maria Luisa Aquaron, Robert Mizoguchi, Masako Kato, Atsushi Ishii, Masamitsu Bitner-Glindzicz, Maria Barnicoat, Angela Wilson, Louise Tsukamoto, Katsuhiko Ueda, Hiroshi Mancini, Anthony J Suzuki, Tamio Riley, Jacquely Miertus, Jan Camargo, Mauricio Santoro-Zea, Alexandra Atkin, Joan Fukai, Kazuyoshi Producer: 20050426 In: The Journal of investigative dermatology vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in KCTD1 cause scalp-ear-nipple syndrome. [electronic resource] by Marneros, Alexander G Beck, Anita E Turner, Emily H McMillin, Margaret J Edwards, Matthew J Field, Michael de Macena Sobreira, Nara Lygia Perez, Ana Beatriz A Fortes, Jose A R Lampe, Anne K Giovannucci Uzielli, Maria Luisa Gordon, Christopher T Plessis, Ghislaine Le Merrer, Martine Amiel, Jeanne Reichenberger, Ernst Shively, Kathryn M Cerrato, Felecia Labow, Brian I Tabor, Holly K Smith, Joshua D Shendure, Jay Nickerson, Deborah A Bamshad, Michael J Producer: 20130604 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. [electronic resource] by Huber, Céline Delezoide, Anee-Lise Guimiot, Fabien Baumann, Clarisse Malan, Valérie Le Merrer, Martine Da Silva, Daniela Bezerra Bonneau, Dominique Chatelain, Pierre Chu, Carol Clark, Robin Cox, Helen Edery, Patrick Edouard, Thomas Fano, Virginia Gibson, Kate Gillessen-Kaesbach, Gabriele Giovannucci-Uzielli, Maria-Luisa Graul-Neumann, Luitgard Margarete van Hagen, Johana-Maria van Hest, Liselot Horovitz, Dafne Melki, Judith Partsch, Carl-Joachim Plauchu, Henry Rajab, Anna Rossi, Massimiliano Sillence, David Steichen-Gersdorf, Elisabeth Stewart, Helen Unger, Sheila Zenker, Martin Munnich, Arnold Cormier-Daire, Valérie Producer: 20090423 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. [electronic resource] by McMillin, Margaret J Beck, Anita E Chong, Jessica X Shively, Kathryn M Buckingham, Kati J Gildersleeve, Heidi I S Aracena, Mariana I Aylsworth, Arthur S Bitoun, Pierre Carey, John C Clericuzio, Carol L Crow, Yanick J Curry, Cynthia J Devriendt, Koenraad Everman, David B Fryer, Alan Gibson, Kate Giovannucci Uzielli, Maria Luisa Graham, John M Hall, Judith G Hecht, Jacqueline T Heidenreich, Randall A Hurst, Jane A Irani, Sarosh Krapels, Ingrid P C Leroy, Jules G Mowat, David Plant, Gordon T Robertson, Stephen P Schorry, Elizabeth K Scott, Richard H Seaver, Laurie H Sherr, Elliott Splitt, Miranda Stewart, Helen Stumpel, Constance Temel, Sehime G Weaver, David D Whiteford, Margo Williams, Marc S Tabor, Holly K Smith, Joshua D Shendure, Jay Nickerson, Deborah A Bamshad, Michael J Producer: 20140627 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)