תוצאות חיפוש - Rita Fischetto

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  1. 1
    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 מאת Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Buttè, Luigi Memo, Giuseppe Capovilla, Giovanni Neri

    יצא לאור 2003
    קבל טקסט מלא
    Artigo
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  2. 2
    Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α

    Impaired bone remodeling in children with osteogenesis imperfecta treated and untreated with bisphosphonates: the role of DKK1, RANKL, and TNF-α מאת Giacomina Brunetti, Francesco Papadia, Albina Tummolo, Rita Fischetto, F. Nicastro, Laura Piacente, Alessandro Ventura, Giorgio Mori, Angela Oranger, Isabella Gigante, Silvia Colucci, Maria Laura Ciccarelli, Maria Grano, Luciano Cavallo, Maurizio Delvecchio, Maria Felicia Faienza

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  3. 3
    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

    SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development מאת Daniel Kelberman, Sandra C. de Castro, Shuwen Huang, John A. Crolla, Rodger Palmer, John W. Gregory, David Taylor, Luciano Cavallo, Maria Felicia Faienza, Rita Fischetto, John C. Achermann, Juan Pedro Martı́nez-Barberá, Karine Rizzoti, Robin Lovell‐Badge, Iain C. A. F. Robinson, Dianne Gerrelli, Mehul Dattani

    יצא לאור 2008
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome מאת Jet Bliek, Gaetano Verde, Jonathan L A Callaway, Saskia M. Maas, Agostina De Crescenzo, Angela Sparago, Flavia Cerrato, Silvia Russo, Serena Ferraiuolo, Maria Michela Rinaldi, Rita Fischetto, Faustina Lalatta, Lucio Giordano, Paola Ferrari, Maria Vittoria Cubellis, Lidia Larizza, I. Karen Temple, Marcel M.A.M. Mannens, Deborah Mackay, Andrea Riccio

    יצא לאור 2008
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    Artigo
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  5. 5
    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

    <i>BRF1</i> mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies מאת Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Hölger Thiele, Maria Kousi, Francesca Romana Lepri, Larissa Wenzeck, Ian Blumenthal, A. Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah Morris‐Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Errata/Corrigenda
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  6. 6
    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies מאת Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    יצא לאור 2010
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

    A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features מאת A-M Molin, Joris Andrieux, David A. Koolen, Valérie Malan, Massimo Carella, Laurence Colleaux, Valérie Cormier‐Daire, A. David, Nicole de Leeuw, B Delobel, Bénédicte Duban‐Bedu, Rita Fischetto, Frances Flinter, Søren K. Kjærgaard, Fernando Kok, Ana Cristina Victorino Krepischi, C. Le Caignec, Caroline Mackie Ogilvie, Sofia Maia, M. Mathieu‐Dramard, A Munnich, Orazio Palumbo, Francesco Papadia, Rolph Pfundt, William Reardon, Aline Receveur, Marlène Rio, L Ronsbro Darling, Carla Rosenberg, JAMILE DE OLIVEIRA SÁ, Louis Vallée, C. Vincent‐Delorme, Leopoldo Zelante, M.-L. Bondeson, Göran Annerén

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients מאת Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perrìa, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, E. Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante, Giuseppe Merla

    יצא לאור 2014
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  9. 9
    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 מאת 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

    יצא לאור 2007
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  10. 10
    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

    Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients מאת Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla

    יצא לאור 2011
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

    Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism מאת John J. Reynolds, Louise S. Bicknell, Paula Carroll, Martin R. Higgs, Ranad Shaheen, Jennie Murray, Dimitrios K. Papadopoulos, Andrea Leitch, Olga Murina, Žygimantė Tarnauskaitė, Sarah R. Wessel, Anastasia Zlatanou, Audrey Vernet, Alex von Kriegsheim, Rachel M.A. Mottram, Clare V. Logan, Hannah Bye, Yun Li, Alexander Brean, Sateesh Maddirevula, Rachel Challis, Kassiani Skouloudaki, Agaadir Almoisheer, Hessa S. Alsaif, Ariella Amar, Natalie J. Prescott, Michael B. Bober, Angela L. Duker, Eissa Faqeih, Mohammed Zain Seidahmed, Saeed Al Tala, Abdulrahman Alswaid, Saleem Ahmed, Jumana Y. Al‐Aama, Janine Altmüller, Mohammed Al Balwi, Angela F. Brady, Luciana Chessa, Helen Cox, Rita Fischetto, Raoul Heller, B Henderson, Emma Hobson, Peter Nürnberg, E. Ferda Perçin, Angela Peron, Luigina Spaccini, Alan J. Quigley, Seema Thakur, Carol A. Wise, Grace Yoon, Maha Alnemer, Pavel Tomančák, Gökhan Yigit, A. Malcolm R. Taylor, Martin A.M. Reijns, Michael A. Simpson, David Cortez, Fowzan S. Alkuraya, Christopher G. Mathew, Andrew P. Jackson, Grant S. Stewart

    יצא לאור 2017
    קבל טקסט מלא
    Artigo
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