Chromothripsis and ring chromosome 22: a paradigm of genomic...
jmg.bmj.com
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) Nehir Kurtas 1, Filippo Arrigoni 2, Edoardo Errichiello 1, Claudio Zucca 3, Cristina Maghini 4, Maria Grazia D’Angelo 4, Silvana Beri 5, Roberto Giorda 5,
Beri, Silvana | DeepDyve
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2007 Wiley‐Liss, Inc. Renata Bocciardi,1 Roberto Giorda,2 Jens Buttgereit,3,4 Stefania Gimelli,5 Maria Teresa Divizia,1 Silvana Beri,2 Silvio ...
139,6k - Istituti Clinici di Perfezionamento
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child with cerebellar astrocytoma”; J. Child Neurology; Sep; 21 (9): In press Roberto Giorda. 1,20. , M. Clara Bonaglia. 2,20. , Silvana Beri. 1.
Bonaglia, Maria Clara | DeepDyve
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Roberto Giorda,1 Roberto Ciccone,2 Giorgio Gimelli,3 Tiziano Pramparo,2 Silvana Beri,1 ` Maria Clara Bonaglia,1 Sabrina Giglio,4 Maurizio ...
Complex Segmental Duplications Mediate a Recurrent dup(X ...
www.sciencedirect.com
Sep 11, · Author links open overlay panel Roberto Giorda M. Clara Bonaglia Silvana Beri 1 Marco Fichera 5 Francesca Novara 8 Pamela Magini 9 Jill Urquhart 10 Freddie H. Sharkey 11 Claudio Zucca 3 Rita Grasso 4 Susan Marelli 4 Lucia Castiglia 5 Daniela Di Benedetto 5 Sebastiano A. Musumeci 6 Girolamo A. Vitello 6 Pinella Failla 7 Santina Reitano ...
Complex Segmental Duplications Mediate a Recurrent dup(X ...
www.ncbi.nlm.nih.gov
Sep 11, · Roberto Giorda, 1, 20, ∗ M. Clara Bonaglia, 2, 20 Silvana Beri, 1 Marco Fichera, 5 Francesca Novara, 8 Pamela Magini, 9 Jill Urquhart, 10 Freddie H. Sharkey, 11 Claudio Zucca, 3 Rita Grasso, 4 Susan Marelli, 4 Lucia Castiglia, 5 Daniela Di Benedetto, 5 Sebastiano A. Musumeci, 6 Girolamo A. Vitello, 6 Pinella Failla, 7 Santina Reitano,
The tumor suppressor gene TRC8/RNF139 is disrupted by a...
molecular-cancer.biomedcentral.com
... Silvana Beri 3, Harry A Drabkin 4, Claudio Gambini 5, Andrea Gregorio 5, Patrizia Fiorio 6, Orsetta Zuffardi 1 7, Robert M Gemmill 4, Roberto Giorda 3 and Giorgio
Genotype–phenotype relationship in a child with 2.3 Mb de novo...
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Isabella Fanizza a, Sara Bertuzzo b, Silvana Beri c, Elisabetta Scalera a, Angelo Massagli a,. Maria Enrica Sali d, Roberto Giorda c, Maria ...
CORE
core.ac.uk
By Paola Griseri, Yvonne Vos, Roberto Giorda, Stefania Gimelli, Silvana Beri, Giuseppe Santamaria, Guendalina Mognato, Robert M W Hofstra, Giorgio Gimelli and Isabella Ceccherini. Abstract. Hirschsprung's disease (HSCR), a congenital complex disorder of intestinal innervation, is often associated with other inherited syndromes.
Breakpoint determination of 15 large deletions in Peutz ...
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Jul 11, · Roberto Giorda & Silvana Beri. Dipartimento di Medicina Interna e Medicina Pubblica, Sezione di Genetica Medica, Università di Bari “Aldo Moro”, Policlinico Piazza G. Cesare 11Bari, Italy. Francesco Claudio Susca & Ginevra Guanti. IRCCS C. …
Breakpoint determination of 15 large deletions in Peutz–Jeghers...
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Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects. Nicoletta Resta · Roberto Giorda · Rosanna Bagnulo · Silvana Beri ·.
Testis development in the absence of SRY: chromosomal rearrangements...
www.nature.com
Roberto Giorda & Silvana Beri. Laboratorio Analisi CITOTEST, Consorzio GENiMED, Sarmeola di Rubano (PD), Italy. Laura Cardarelli.
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Genotype-phenotype relationship in a child with 2.3Mb de novo...
moh-it.pure.elsevier.com
Genotype-phenotype relationship in a child with 2.3Mb de novo interstitial 12p p deletion Isabella Fanizza, Sara Bertuzzo, Silvana Beri, Elisabetta Scalera, Angelo Massagli, Maria Enrica Sali, Roberto Giorda , Maria Clara Bonaglia
5p13 microduplication syndrome: a new case and better clinical ...
www.galenicom.com
Francesca Novara · Enrico Alfei · Stefano D'Arrigo · Chiara Pantaleoni · Silvana Beri · Valentina Achille · Francesca L Sciacca · Roberto Giorda ...
Molecular Mechanisms Generating and Stabilizing …
journals.plos.org
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome. Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone
Breakpoint determination of 15 large deletions in Peutz-Jeghers...
www.proquest.com
Nicoletta Resta · Roberto Giorda · Rosanna Bagnulo · Silvana Beri ·.
roberto.ciccone - Publications List
publicationslist.org
Roberto Giorda, Roberto Ciccone, Giorgio Gimelli, Tiziano Pramparo, Silvana Beri, Maria Clara Bonaglia, Sabrina Giglio, Maurizio Genuardi, Jesùs
Genotype|[ndash]|phenotype relationship in three cases with...
www.bionity.com
... Elisabeth Mangold, Silvana Beri, Claudio Zucca, Daniele Brambilla, Massimo Molteni, Roberto Giorda, Ruthild G Weber & Orsetta Zuffardi ...
Molecular mechanisms generating and stabilizing terminal 22q13...
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Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, ...
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