Hasil Pencarian - Stefania Gimelli

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  1. 1
    Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation

    Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation oleh Francesca Lantieri, Michela Malacarne, Stefania Gimelli, Giuseppe Santamaria, Domenico Coviello, Isabella Ceccherini

    Diterbitkan 2017-03-01
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  2. 2
    Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli.

    Identification of an interstitial 18p11.32-p11.31 duplication including the EMILIN2 gene in a family with porokeratosis of Mibelli. oleh Corrado Occella, Dario Bleidl, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Giorgio Gimelli, Stefania Gimelli, Elisa Tassano

    Diterbitkan 2013-01-01
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  3. 3
    Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor

    Generation of human induced pluripotent stem cell line UNIGEi003-A from skin fibroblasts of an apparently healthy male donor oleh Erika Cosset, Tieng Vannary, Frédérique Sloan-Béna, Stefania Gimelli, Eric Gerstel, Karl-Heinz Krause, Antoine Marteyn

    Diterbitkan 2020-10-01
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  4. 4
    Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.

    Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations. oleh Elisa Tassano, Jens Buttgereit, Michael Bader, Margherita Lerone, Maria Teresa Divizia, Renata Bocciardi, Flavia Napoli, Giovanna Pala, Frédérique Sloan-Béna, Stefania Gimelli, Giorgio Gimelli

    Diterbitkan 2013-01-01
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  5. 5
    Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring.

    Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring. oleh Valeria Capra, Samantha Mascelli, Maria Luisa Garrè, Paolo Nozza, Carlotta Vaccari, Lara Bricco, Frédérique Sloan-Béna, Stefania Gimelli, Cristina Cuoco, Giorgio Gimelli, Elisa Tassano

    Diterbitkan 2013-01-01
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  6. 6
    Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

    Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease oleh Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini

    Diterbitkan 2019-11-01
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  7. 7
    A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes.

    A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes. oleh Outi Hovatta, Marisa Jaconi, Virpi Töhönen, Frédérique Béna, Stefania Gimelli, Alexis Bosman, Frida Holm, Stefan Wyder, Evgeny M Zdobnov, Olivier Irion, Peter W Andrews, Stylianos E Antonarakis, Marco Zucchelli, Juha Kere, Anis Feki

    Diterbitkan 2010-04-01
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  8. 8
    The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

    The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. oleh Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Frederique Sloan-Bena, Pierre Calvel, Gorjana Robevska, Beatriz Puisac, Kamila Kusz-Zamelczyk, Stefania Gimelli, Anna Spik, Jadwiga Jaruzelska, Alina Warenik-Szymankiewicz, Sultana Faradz, Serge Nef, Juan Pié, Paul Thomas, Andrew Sinclair, Dagmar Wilhelm

    Diterbitkan 2020-01-01
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  9. 9
    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

    Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. oleh Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

    Diterbitkan 2011-07-01
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