Rezultati pretrage - Agatino Battaglia

Detaljiziraj rezultate
  1. 1
    The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment

    The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment od Agatino Battaglia

    Izdano 2014
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  2. 2
    The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

    The inv dup (15) or idic (15) syndrome (Tetrasomy 15q) od Agatino Battaglia

    Izdano 2008
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  3. 3
    Comparison of Growth Patterns of Acoustic Neuromas With and Without Radiosurgery

    Comparison of Growth Patterns of Acoustic Neuromas With and Without Radiosurgery od Agatino Battaglia, Bill Mastrodimos, Roberto A. Cueva

    Izdano 2006
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  4. 4
    Genetic disorders associated with macrocephaly

    Genetic disorders associated with macrocephaly od Charles A. Williams, Aditi I Dagli, Agatino Battaglia

    Izdano 2008
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  5. 5
    Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients

    Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients od Agatino Battaglia, Tiziana Filippi, Sarah T. South, John C. Carey

    Izdano 2009
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  6. 6
    Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

    Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations od Sarah T. South, Heidi Whitby, Agatino Battaglia, John C. Carey, Arthur R. Brothman

    Izdano 2007
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  7. 7
    An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

    An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray od Elena Bacchelli, Cinzia Cameli, Marta Viggiano, Roberta Igliozzi, Alice Mancini, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini

    Izdano 2020
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  8. 8
    A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

    A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder od Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D’Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini

    Izdano 2014
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  9. 9
    Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

    Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection od Nuala Sykes, Claudio Toma, Natalie Wilson, Emanuela V. Volpi, Inês Sousa, Alistair T. Pagnamenta, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini, Anthony Bailey, Anthony P. Monaco

    Izdano 2009
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  10. 10
    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

    High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? od Laura Bernardini, Viola Alesi, Sara Loddo, Antonio Novelli, Irene Bottillo, Agatino Battaglia, M. Cristina Digilio, Giuseppe Zampino, Adam Ertel, Paolo Fortina, Saul Surrey, Bruno Dallapiccola

    Izdano 2009
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  11. 11
    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry

    Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry od Inês Sousa, Taane G. Clark, Richard Holt, Alistair T. Pagnamenta, Erik J. Mulder, Ruud B. Minderaa, Anthony Bailey, Agatino Battaglia, Sabine M. Klauck, Fritz Poustka, Anthony P. Monaco

    Izdano 2010
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  12. 12
    MET and autism susceptibility: family and case–control studies

    MET and autism susceptibility: family and case–control studies od Inês Sousa, Taane G. Clark, Claudio Toma, Kazuhiro Kobayashi, Maja K. Choma, Richard Holt, Nuala Sykes, Janine A. Lamb, Anthony Bailey, Agatino Battaglia, Elena Maestrini, Anthony P. Monaco

    Izdano 2008
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  13. 13
    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome

    Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome od Karen S. Ho, Sarah T. South, Amanda Lortz, Charles H. Hensel, Mallory R. Sdano, Rena Vanzo, Megan Martin, Andreas Peiffer, Christophe G Lambert, Amy Calhoun, John C. Carey, Agatino Battaglia

    Izdano 2016
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  14. 14
    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome od Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

    Izdano 2005
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  15. 15
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome od Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    Izdano 2007
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  16. 16
    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients

    Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients od Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, Elena Maestrini, Marco Seri, G. Cara Romeo

    Izdano 2014
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  17. 17
    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome od Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill

    Izdano 2015
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  18. 18
    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q od Elena Bonora, Janine A. Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S. Beyer, Sabine M. Klauck, F. Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brøndum‐Nielsen, R. M. J. Cotterill, Herman von Engeland, Maretha Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick Bolton, Jeremy Parr, Annemarie Poustka, Anthony Bailey, Anthony P. Monaco

    Izdano 2004
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  19. 19
    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

    Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype od 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

    Izdano 2020
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  20. 20
    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

    De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder od Anne Gregor, Lynette G. Sadleir, Reza Asadollahi, Silvia Azzarello‐Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel, Rebecca Buchert, Eduardo Calpena, Benjamin Cogné, Bruno Dallapiccola, Felix Distelmaier, Frances Elmslie, Laurence Faivre, Tobias B. Haack, Victoria Harrison, Alex Henderson, David Hunt, Bertrand Isidor, Pascal Joset, Satoko Kumada, Augusta M.A. Lachmeijer, Melissa Lees, Sally Ann Lynch, Francisco Martı́nez, Naomichi Matsumoto, Carey McDougall, Heather C Mefford, Noriko Miyake, Candace T. Myers, Sébastien Moutton, Addie Nesbitt, Antonio Novelli, Carmen Orellana, Anita Rauch, Mónica Roselló, Ken Saida, Avni Santani, Ajoy Sarkar, Ingrid E. Scheffer, Marwan Shinawi, Katharina Steindl, Joseph D. Symonds, Elaine H. Zackai, André Reis, Heinrich Sticht, Christiane Zweier

    Izdano 2018
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