Search Results - Bruno Dallapiccola

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  1. 1
    Orphanet Journal of Rare Diseases: Launch Editorial

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

    Published 2006
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  2. 2
    Joubert Syndrome and related disorders

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

    Published 2010
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  3. 3
    Leopard syndrome

    Leopard syndrome by Anna Sárközy, M. Cristina Digilio, Bruno Dallapiccola

    Published 2008
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  4. 4
    Guidelines for the appropriate use of genetic tests in infertile couples

    Guidelines for the appropriate use of genetic tests in infertile couples by Carlo Foresta, Alberto Ferlin, Luca Gianaroli, Bruno Dallapiccola

    Published 2002
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  5. 5
    Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma.

    Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. by Paola Amicucci, Massimo Gennarelli, Giuseppe Novelli, Bruno Dallapiccola

    Published 2000
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  6. 6
    Mediterranean Diet and Health: Food Effects on Gut Microbiota and Disease Control

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

    Published 2014
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  7. 7
    The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood

    The human gut microbiota: a dynamic interplay with the host from birth to senescence settled during childhood by Lorenza Putignani, Federica Del Chierico, Andrea Petrucca, Pamela Vernocchi, Bruno Dallapiccola

    Published 2014
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  8. 8
    Discordant sex in one of three monozygotic triplets.

    Discordant sex in one of three monozygotic triplets. by Bruno Dallapiccola, C Stomeo, Giovanna Ferranti, A Di Lecce, M. Purpura

    Published 1985
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  9. 9
    A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype

    A homozygousGJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype by Antonio Pizzuti, Elisabetta Flex, Rita Mingarelli, Carmelo Salpietro, Leopoldo Zelante, Bruno Dallapiccola

    Published 2004
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  10. 10
    A 4‐Polymorphism Risk Score Predicts Steatohepatitis in Children With Nonalcoholic Fatty Liver Disease

    A 4‐Polymorphism Risk Score Predicts Steatohepatitis in Children With Nonalcoholic Fatty Liver Disease by Valério Nobili, Benedetta Donati, Nadia Panera, Apirom Vongsakulyanon, Anna Alisi, Bruno Dallapiccola, Luca Valenti

    Published 2013
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  11. 11
    Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

    Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism by Laura Silvestri, Viviana Caputo, Emanuele Bellacchio, Luigia Atorino, Bruno Dallapiccola, Enza Maria Valente, Giorgio Casari

    Published 2005
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  12. 12
    The INSL3-LGR8/GREAT Ligand-Receptor Pair in Human Cryptorchidism

    The INSL3-LGR8/GREAT Ligand-Receptor Pair in Human Cryptorchidism by Alberto Ferlin, Mauro Simonato, Lucia Bartoloni, Giorgia Rizzo, Andrea Bettella, Tania Dottorini, Bruno Dallapiccola, Carlo Foresta

    Published 2003
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  13. 13
    Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene

    Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene by M. Cristina Digilio, Emanuela Conti, Anna Sárközy, Rita Mingarelli, Tania Dottorini, Bruno Marino, Antonio Pizzuti, Bruno Dallapiccola

    Published 2002
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  14. 14
    Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

    Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation by Enza Maria Valente, D. C. Salpietro, Francesco Brancati, Enrico Bertini, Tiziana Galluccio, Gaetano Tortorella, Silvana Briuglia, Bruno Dallapiccola

    Published 2003
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  15. 15
    The internet user profile of Italian families of patients with rare diseases: a web survey

    The internet user profile of Italian families of patients with rare diseases: a web survey by Alberto Eugenio Tozzi, Rita Mingarelli, Eleonora Agricola, Michaela Veronika Gonfiantini, Elisabetta Pandolfi, Emanuela Carloni, Francesco Gesualdo, Bruno Dallapiccola

    Published 2013
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  16. 16
    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. by Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens

    Published 1991
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  17. 17
    Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson’s disease by disturbing calcium flux

    Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson’s disease by disturbing calcium flux by Roberta Marongiu, Brian Spencer, Leslie Crews, Anthony Adame, Christina Patrick, Margarita Trejo, Bruno Dallapiccola, Enza Maria Valente, Eliezer Masliah

    Published 2009
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  18. 18
    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

    Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome by Damien Lederer, Bernard Grisart, M. Cristina Digilio, Valérie Benoît, Marianne Crespin, S. Ghariani, Isabelle Maystadt, Bruno Dallapiccola, Christine Verellen‐Dumoulin

    Published 2011
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  19. 19
    Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0)

    Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0) by Roberto Stasi, Giovanni Del Poeta, Adriano Venditti, M Masi, Elisa Stipa, T Dentamaro, Maria Christina Cox, Bruno Dallapiccola, Giuseppe Papa

    Published 1994
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  20. 20
    A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13

    A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13 by Francesco Brancati, Enza Maria Valente, Anna Sárközy, János Fehér, Marco Castori, P Del Duca, R. Mingarelli, Antonio Pizzuti, Bruno Dallapiccola

    Published 2004
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