खोज परिणाम - María Clara Bonaglia

  • प्रदर्शित 1 - 17 परिणाम 17
परिणाम को परिष्कृत करें
  1. 1
    Inverted duplications deletions: underdiagnosed rearrangements??

    Inverted duplications deletions: underdiagnosed rearrangements?? द्वारा Orsetta Zuffardi, María Clara Bonaglia, Roberto Ciccone, Roberto Giorda

    प्रकाशित 2009
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    Revisão
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  2. 2
    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome द्वारा María Clara Bonaglia, Roberto Giorda, Renato Borgatti, G. Felisari, Chiara Gagliardi, Angelo Selicorni, Orsetta Zuffardi

    प्रकाशित 2001
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    Artigo
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  3. 3
    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome द्वारा María Clara Bonaglia, Roberto Giorda, Elisa Mani, Giammarco Aceti, B-M Anderlid, Anna Baroncini, Tiziano Pramparo, Orsetta Zuffardi

    प्रकाशित 2005
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    Carta
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  4. 4
    Role of mycotoxins in the pathobiology of autism: A first evidence

    Role of mycotoxins in the pathobiology of autism: A first evidence द्वारा Barbara De Santis, Carlo Brera, Alessandra Mezzelani, Sabina Soricelli, Francesca Ciceri, G Moretti, Francesca Debegnach, María Clara Bonaglia, Laura Villa, Massimo Molteni, Maria Elisabetta Raggi

    प्रकाशित 2017
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    Artigo
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  5. 5
    A novel<i>CLN8</i>mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

    A novel<i>CLN8</i>mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function द्वारा Chiara Vantaggiato, Francesca Redaelli, Sestina Falcone, Cristiana Perrotta, Alessandra Tonelli, Sara Bondioni, Michela Morbin, Daria Riva, Veronica Saletti, María Clara Bonaglia, Roberto Giorda, Nereo Bresolin, Emilio Clementi, Maria Teresa Bassi

    प्रकाशित 2009
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    Artigo
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  6. 6
    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype

    Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype द्वारा María Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, Stefania Gimelli, Susan Marelli, Joanne Verheij, Roberto Giorda, Rita Grasso, Renato Borgatti, Filomena Pagone, Laura Rodríguez, Maria-Luisa Martinez-Frias, Conny van Ravenswaaij, Orsetta Zuffardi

    प्रकाशित 2008
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    Artigo
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  7. 7
    Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

    Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy द्वारा Stefania Corti, Monica Nizzardo, Chiara Simone, Marianna Falcone, Martina Nardini, Dario Ronchi, Chiara Donadoni, Sabrina Salani, Giulietta Riboldi, Francesca Magri, Giorgia Menozzi, María Clara Bonaglia, Federica Rizzo, Nereo Bresolin, Giacomo P. Comi

    प्रकाशित 2012
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    Artigo
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  8. 8
    Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

    Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes द्वारा Micheala A. Aldred, R O C Sanford, N. Simon Thomas, M A Barrow, Louise C. Wilson, L A Brueton, María Clara Bonaglia, Raoul C. M. Hennekam, Charis Eng, N R Dennis, Richard C. Trembath

    प्रकाशित 2004
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    Carta
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  9. 9
    Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

    Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects द्वारा Sabrina Giglio, Sharon Graw, Giorgio Gimelli, Barbara Pirola, Paolo Varone, Lucille Voullaire, Franco Lerzo, Elena Rossi, Claudia Dellavecchia, María Clara Bonaglia, M. Cristina Digilio, Aldo Giannotti, Bruno Marino, Romeo Carrozzo, Julie R. Korenberg, Cesare Danesino, Eva Sujansky, Bruno Dallapiccola, Orsetta Zuffardi

    प्रकाशित 2000
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    Artigo
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  10. 10
    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

    Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability द्वारा A. T. Pagnamenta, Hamza Khan, Susan Walker, Dianne Gerrelli, Kirsty Wing, María Clara Bonaglia, Roberto Giorda, T. P. Berney, Elisa Mani, Massimo Molteni, Dalila Pinto, Ann Le Couteur, Joachim Hallmayer, James S. Sutcliffe, Peter Szatmari, Andrew D. Paterson, Stephen W. Scherer, Veronica J. Vieland, Anthony P. Monaco

    प्रकाशित 2010
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    Artigo
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  11. 11
    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

    Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations द्वारा Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Désirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, M. Di Rocco, Francesca Faravelli, F. Dagna Bricarelli, María Clara Bonaglia, MariaFrancesca Bedeschi, Renato Borgatti

    प्रकाशित 2001
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    Carta
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  12. 12
    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

    Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment द्वारा Nicola Brunetti‐Pierri, Alex R. Paciorkowski, Roberto Ciccone, Erika Della Mina, María Clara Bonaglia, Renato Borgatti, Christian P. Schaaf, V. Reid Sutton, Zhilian Xia, Naftha Jelluma, Claudia Ruivenkamp, Mary Bertrand, Thomy de Ravel, Parul Jayakar, Serena Belli, Katia Rocchetti, Chiara Pantaleoni, Stefano D’Arrigo, Jeff Hughes, Sau Wai Cheung, Orsetta Zuffardi, Paweł Stankiewicz

    प्रकाशित 2010
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    Artigo
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  13. 13
    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 द्वारा Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada‐Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, M Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, M Basly, Myriam Châabouni, Massimo Carella, Gianni Russo, María Clara Bonaglia, Orsetta Zuffardi

    प्रकाशित 2014
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    Artigo
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  14. 14
    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

    Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females द्वारा Roberto Giorda, María Clara Bonaglia, Silvana Beri, Marco Fichera, Francesca Novara, Pamela Magini, Jill Urquhart, Freddie H. Sharkey, Claudio Zucca, Rita Grasso, Susan Marelli, Lucia Castiglia, Daniela Benedetto, S Musumeci, Girolamo Aurelio Vitello, Pinella Failla, S Reitano, Emanuela Avola, Francesca Bisulli, Paolo Tinuper, Massimo Mastrangelo, Isabella Fiocchi, Luigina Spaccini, Claudia Torniero, Elena Fontana, Sally Ann Lynch, Jill Clayton‐Smith, Graeme Black, Philippe Jonveaux, Bruno Leheup, Marco Seri, Corrado Romano, Bernardo Dalla Bernardina, Orsetta Zuffardi

    प्रकाशित 2009
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    Artigo
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  15. 15
    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients

    Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients द्वारा Manuela De Gregori, Roberto Ciccone, Pamela Magini, Tiziano Pramparo, Stefania Gimelli, Jole Messa, Francesca Novara, Annalisa Vetro, Elena Rossi, P Maraschio, María Clara Bonaglia, Cecilia Anichini, Giovanni Battista Ferrero, Margherita Silengo, Elisa Fazzi, Adriana Zatterale, Rita Fischetto, Carlo Previderé, S. Belli, Alessandra Turci, G Calabrese, Franca Bernardi, Emanuela Meneghelli, Mariluce Riegel, Mariano Rocchi, Silvana Guerneri, Faustina Lalatta, Leopoldo Zelante, Corrado Romano, Marco Fichera, Teresa Mattina, Giulia Arrigo, Marcella Zollino, Sabrina Giglio, Fortunato Lonardo, Aldo Bonfante, Alessandra Ferlini, Francisco Tejada Cifuentes, Hilde Van Esch, Liesbeth Backx, Albert Schinzel, Joris Vermeesch, Orsetta Zuffardi

    प्रकाशित 2007
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    Artigo
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  16. 16
    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

    Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome द्वारा María Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Maria de Souza‐Motta, Massimo Molteni, Corrado Romano, Donatella Greco, S Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D’Arrigo, Daria Riva, Francesca L. Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frédérique Béna, Alfredo Brusco, Eleonora Di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, María Luisa Martínez‐Frías, M.L. Martínez‐Fernández, N. Martínez Guardia, Anna Bremer, Britt‐Marie Anderlid, Orsetta Zuffardi

    प्रकाशित 2011
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    Artigo
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  17. 17
    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

    Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders द्वारा Chelsea Lowther, Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand, Zirui Dong, Malene Bøgehus Rasmussen, Huiya Gu, David Weisz, Lusine Nazaryan‐Petersen, Amanda S. Fjorder, Yuan Mang, Allan Lind-Thomsen, Juan M. M. Mendez, Xabier Calle, Anuja Chopra, Claus Hansen, Merete Bugge, Roeland Broekema, Teppo Varilo, Tiia Maria Luukkonen, J.J.M. Engelen, Angela Maria Vianna‐Morgante, Ana Carolina Fonseca, Juliana F. Mazzeu, Halinna Dornelles-Wawruk, Kikue Terada Abe, Joris Vermeesch, Kris Van Den Bogaert, Carolina Sismani, Constantia Aristidou, Paola Evangelidou, Albert Schinzel, Damien Sanlaville, Caroline Schluth–Bolard, Vera M. Kalscheuer, Maren Wenzel, Hyung‐Goo Kim, Katrin Õunap, Laura Roht, Susanna Midyan, María Clara Bonaglia, Anna Lindstrand, Jesper Eisfeldt, Jesper Ottosson, Daniel Nilsson, Maria Pettersson, Elenice Ferreira Bastos, Evica Rajcan‐Separovic, Fatma Sılan, Frenny Sheth, Antonio Novelli, Eirik Frengen, Madeleine Fannemel, Petter Strømme, Nadja Kokalj Vokač, Cornelia Daumer‐Haas, Danilo Moretti‐Ferreira, Deise Helena de Souza, María A. Ramos‐Arroyo, Maria M. Igoa, Lyudmila Angelova, Peter M. Kroisel, Graciela del Rey, Társis Paiva Vieira, M. E. Suzanne Lewis, Hao Wang, Jana Drabova, Markéta Havlovičová, Miroslava Hančárová, Zdeněk Sedláček, Ida Vogel, Tina Duelund Hjortshøj, Rikke S. Møller, Zeynep Tümer, Christina Fagerberg, Lilian Bomme Ousager, Bitten Schönewolf‐Greulich, Mathilde Lauridsen, Juliette Piard, Céline Pebrel‐Richard, Sylvie Jaillard, Nadja Ehmke, Eunice G. Stefanou, Czakó Marta, Kosztolányi György, Ashwin Dalal, Usha R. Dutta, Rashmi Shukla, Fortunato Lonardo, Orsetta Zuffardi, Gunnar Houge, Doriana Misceo, Shahid Mahmood Baig, Alina T. Midro, Natalia Wawrusiewicz‐Kurylonek, Isabel M. Carreira, Joana Barbosa Melo, Laura Rodriguez Martinez

    प्रकाशित 2022
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    Pré-impressão
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