檢索結果 - Dallapiccola, Bruno

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  1. 1
    Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

    Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome 由 Dallapiccola, Bruno, Mingarelli, Rita

    出版 1995
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  2. 2
    Acro-cardio-facial syndrome

    Acro-cardio-facial syndrome 由 Digilio, Maria Cristina, Dallapiccola, Bruno

    出版 2010
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  3. 3
    Orphanet Journal of Rare Diseases: Launch Editorial

    Orphanet Journal of Rare Diseases: Launch Editorial 由 Aymé, Ségolène, Dallapiccola, Bruno, Donnai, Dian

    出版 2006
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  4. 4
    KBG syndrome

    KBG syndrome 由 Brancati, Francesco, Sarkozy, Anna, Dallapiccola, Bruno

    出版 2006
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  5. 5
    Potential of multiomics technology in precision medicine

    Potential of multiomics technology in precision medicine 由 Putignani, Lorenza, Gasbarrini, Antonio, Dallapiccola, Bruno

    出版 2019
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  6. 6
    Leopard syndrome

    Leopard syndrome 由 Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno

    出版 2008
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  7. 7
    Joubert Syndrome and related disorders

    Joubert Syndrome and related disorders 由 Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria

    出版 2010
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  8. 8
    Evidence for Interaction between Psoriasis-Susceptibility Loci on Chromosomes 6p21 and 1q21

    Evidence for Interaction between Psoriasis-Susceptibility Loci on Chromosomes 6p21 and 1q21 由 Capon, Francesca, Semprini, Sabrina, Dallapiccola, Bruno, Novelli, Giuseppe

    出版 1999
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  9. 9
    Clinical utility gene card for: Joubert syndrome

    Clinical utility gene card for: Joubert syndrome 由 Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

    出版 2011
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  10. 10
    Clinical utility gene card for: Joubert Syndrome - update 2013

    Clinical utility gene card for: Joubert Syndrome - update 2013 由 Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

    出版 2013
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  11. 11
    Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control

    Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control 由 Del Chierico, Federica, Vernocchi, Pamela, Dallapiccola, Bruno, Putignani, Lorenza

    出版 2014
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  12. 12
    Genetic prediction of common diseases. Still no help for the clinical diabetologist!

    Genetic prediction of common diseases. Still no help for the clinical diabetologist! 由 Prudente, Sabrina, Dallapiccola, Bruno, Pellegrini, Fabio, Doria, Alessandro, Trischitta, Vincenzo

    出版 2012
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  13. 13
    In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale

    In vivo Functional Genomics for Undiagnosed Patients: The Impact of Small GTPases Signaling Dysregulation at Pan-Embryo Developmental Scale 由 Lauri, Antonella, Fasano, Giulia, Venditti, Martina, Dallapiccola, Bruno, Tartaglia, Marco

    出版 2021
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  14. 14
    Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

    Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome 由 Morcel, Karine, Dallapiccola, Bruno, Pasquier, Laurent, Watrin, Tanguy, Bernardini, Laura, Guerrier, Daniel

    出版 2012
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  15. 15
    Survey of medical genetic services in Italy: year 2011

    Survey of medical genetic services in Italy: year 2011 由 Giardino, Daniela, Mingarelli, Rita, Lauretti, Tiziana, Amoroso, Antonio, Larizza, Lidia, Dallapiccola, Bruno

    出版 2016
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  16. 16
    Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

    Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage? 由 Vuckovic, Dragana, Dallapiccola, Bruno, Franzè, Annamaria, Mauri, Lucia, Perrone, Maria Dolores, Gasparini, Paolo

    出版 2015
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  17. 17
    The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

    The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review 由 Spinelli, Marialuigia, Sica, Carmine, Dallapiccola, Bruno, Novelli, Antonio, Di Meglio, Letizia, Martinelli, Pasquale

    出版 2015
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  18. 18
    Identification of Type A, B, E, and F Botulinum Neurotoxin Genes and of Botulinum Neurotoxigenic Clostridia by Denaturing High-Performance Liquid Chromatography

    Identification of Type A, B, E, and F Botulinum Neurotoxin Genes and of Botulinum Neurotoxigenic Clostridia by Denaturing High-Performance Liquid Chromatography 由 Franciosa, Giovanna, Pourshaban, Manoocheher, De Luca, Alessandro, Buccino, Anna, Dallapiccola, Bruno, Aureli, Paolo

    出版 2004
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  19. 19
    Quantification of Small Non-Coding RNAs Allows an Accurate Comparison of miRNA Expression Profiles

    Quantification of Small Non-Coding RNAs Allows an Accurate Comparison of miRNA Expression Profiles 由 Masotti, Andrea, Caputo, Viviana, Da Sacco, Letizia, Pizzuti, Antonio, Dallapiccola, Bruno, Bottazzo, Gian Franco

    出版 2009
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  20. 20
    Obituary of Dr. Angelo Di George

    Obituary of Dr. Angelo Di George 由 Tarani, Luigi, Digilio, Maria C, Dallapiccola, Bruno, Mc Donald-McGinn, Donna M, Marino, Bruno

    出版 2010
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