Výsledky vyhledávání - Paola Grammatico

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  1. 1
    Neuropathic Pain Is a Common Feature in Ehlers-Danlos Syndrome

    Neuropathic Pain Is a Common Feature in Ehlers-Danlos Syndrome Autor Filippo Camerota, Claudia Celletti, Marco Castori, Paola Grammatico, Luca Padua

    Vydáno 2010
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    Carta
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  2. 2
    Imbalance in the Antioxidant Pool in Melanoma Cells and Normal Melanocytes from Patients with Melanoma

    Imbalance in the Antioxidant Pool in Melanoma Cells and Normal Melanocytes from Patients with Melanoma Autor Mauro Picardo, Paola Grammatico, F. Roccella, Maria Roccella, M. Grandinetti, Giuseppe Del Porto, Siro Passi

    Vydáno 1996
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    Artigo
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  3. 3
    Increased Sensitivity to Peroxidative Agents as a Possible Pathogenic Factor of Melanocyte Damage in Vitiligo

    Increased Sensitivity to Peroxidative Agents as a Possible Pathogenic Factor of Melanocyte Damage in Vitiligo Autor Vittoria Maresca, Maria Roccella, F. Roccella, Emanuela Camera, Giuseppe Del Porto, Siro Passi, Paola Grammatico, Mauro Picardo

    Vydáno 1997
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    Artigo
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  4. 4
    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

    Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling Autor Sara Tomaselli, Francesca Megiorni, Lin Lin, Maria Cristina Mazzilli, Dianne Gerrelli, Silvia Majore, Paola Grammatico, John C. Achermann

    Vydáno 2011
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    Artigo
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  5. 5
    BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

    BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein Autor Raffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, Silvia Bione, Daniela Toniolo, Paola Grammatico, Lawrence M. Nelson, Paolo Beck‐Peccoz, Luca Persani

    Vydáno 2009
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    Artigo
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  6. 6
    Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

    Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes Autor Daniele Cazzato, Marco Castori, Raffaella Lombardi, Francesca Caravello, Eleonora Dalla Bella, Antonio Petrucci, Paola Grammatico, Chiara Dordoni, Marina Colombi, Giuseppe Lauria

    Vydáno 2016
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    Artigo
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  7. 7
    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

    Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype Autor Claudio Carta, Francesca Pantaleoni, Gianfranco Bocchinfuso, Lorenzo Stella, Isabella Vasta, Anna Sárközy, Cristina Digilio, Antonio Palleschi, Antonio Pizzuti, Paola Grammatico, Giuseppe Zampino, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Vydáno 2006
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    Artigo
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  8. 8
    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception Autor Deborah Chiabrando, Marco Castori, Maja Di Rocco, Martin Ungelenk, Sebastian Gießelmann, M. Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A. Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

    Vydáno 2016
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    Artigo
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  9. 9
    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011

    Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011 Autor Antonio Novelli, Francesca Romana Grati, Lucia Ballarati, Laura Bernardini, Domenico Bizzoco, Lamberto Camurri, Rosario Casalone, L Cardarelli, Pietro Cavalli, Roberto Ciccone, M. Clementi, Leda Dalprà, Mattia Gentile, G Gelli, Paola Grammatico, Michela Malacarne, Anna Maria Nardone, Vanna Pecile, Giuseppe Simoni, Orsetta Zuffardi, Daniela Giardino

    Vydáno 2012
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    Revisão
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  10. 10
    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome Autor Fanny Kortüm, Viviana Caputo, Christiane K. Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M. White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M. Campeau, Marco Tartaglia, Kerstin Kutsche

    Vydáno 2015
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    Artigo
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  11. 11
    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 Autor 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

    Vydáno 2014
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    Artigo
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  12. 12
    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology Autor Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, U. Ramenghi, Walter Barberi, Fábio C. Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

    Vydáno 2014
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    Artigo
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  13. 13
    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 Autor 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

    Vydáno 2010
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    Artigo
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  14. 14
    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype Autor Michael S. Breen, Paras Garg, Lara Tang, Danielle Mendonca, Tess Levy, Mafalda Barbosa, Anne B. Arnett, Evangeline C. Kurtz‐Nelson, Emanuele Agolini, Agatino Battaglia, Andreas G. Chiocchetti, Christine M. Freitag, Alicia García-Alcón, Paola Grammatico, Irva Hertz‐Picciotto, Yunin Ludena‐Rodriguez, Carmen Moreno, Antonio Novelli, Mara Parellada, Giulia Pascolini, Flora Tassone, Dorothy E. Grice, Daniele Di Marino, Raphael Bernier, Alexander Kolevzon, Andrew J. Sharp, Joseph D. Buxbaum, Paige M. Siper, Silvia De Rubeis

    Vydáno 2020
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    Artigo
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  15. 15
    Melanoma prone families with<i>CDK4</i>germline mutation: phenotypic profile and associations with<i>MC1R</i>variants

    Melanoma prone families with<i>CDK4</i>germline mutation: phenotypic profile and associations with<i>MC1R</i>variants Autor Hanne Puntervoll, Xiaohong R. Yang, Hildegunn Høberg‐Vetti, Ingeborg Bachmann, M.-F. Avril, M. Benfodda, Caterina Catricalà, Stéphane Dalle, Anne Bénédicte Duval‐Modeste, Paola Ghiorzo, Paola Grammatico, Mark Harland, Nicholas K. Hayward, Hui-Han Hu, Thomas Jouary, Tanguy Martin‐Denavit, Aija Ozola, Jane M. Palmer, Lorenza Pastorino, Dace Pjanova, Nadem Soufir, Solrun Steine, Alexander Stratigos, L. Thomas, Julie Tinat, Hensin Tsao, Rūta Veinalde, Margaret A. Tucker, Brigitte Bressac–de Paillerets, Julia Newton‐Bishop, Alisa M. Goldstein, Lars A. Akslen, Anders Molven

    Vydáno 2013
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    Artigo
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  16. 16
    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

    Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior Autor Holly K. Harris, Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels, Aubrie Soucy, Casie A. Genetti, Victoria Suslovitch, Lance H. Rodan, George E. Tiller, Gaëtan Lesca, Karen W. Gripp, Reza Asadollahi, Ada Hamosh, Carolyn Applegate, Peter D. Turnpenny, Marleen Simon, Catharina M.L. Volker‐Touw, Koen L.I. van Gassen, Ellen van Binsbergen, Rolph Pfundt, Thatjana Gardeitchik, Bert B.A. de Vries, LaDonna Immken, Catherine A. Buchanan, Marcia Willing, Tomi L. Toler, Emily Fassi, Laura Baker, Fleur Vansenne, Xiaodong Wang, Julian L. Ambrus, Madeleine Fannemel, Jennifer E. Posey, Emanuele Agolini, Antonio Novelli, Anita Rauch, Paranchai Boonsawat, Christina Fagerberg, Martin J. Larsen, Maria Kibæk, Audrey Labalme, Alice Poisson, Katelyn Payne, Laurence E. Walsh, Kimberly A. Aldinger, Jorune Balciuniene, Cara Skraban, Christopher Gray, Jill R. Murrell, Caleb Bupp, Giulia Pascolini, Paola Grammatico, Martin Broly, Sébastien Küry, Mathilde Nizon, Iqra Ghulam Rasool, Muhammad Yasir Zahoor, Cornelia Kraus, André Reis, Muhammad Aamir Iqbal, Kévin Uguen, Séverine Audebert‐Bellanger, Claude Férec, Sylvia Redon, Janice Baker, Yunhong Wu, Guiseppe Zampino, Steffan Syrbe, Ines Brösse, Rami Abou Jamra, William B. Dobyns, Lilian Cohen, Anne Blomhoff, Cyril Mignot, Boris Keren, Thomas Courtin, Pankaj B. Agrawal, Alan H. Beggs, Timothy W. Yu

    Vydáno 2021
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