Hasil Pencarian - Elisa Giorgio

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  1. 1
    Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes

    Protein Stability Perturbation Contributes to the Loss of Function in Haploinsufficient Genes oleh Giovanni Birolo, Silvia Benevenuta, Piero Fariselli, Emidio Capriotti, Elisa Giorgio, Tiziana Sanavia

    Diterbitkan 2021-02-01
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  2. 2
    Lamin B1 as a key modulator of the developing and aging brain

    Lamin B1 as a key modulator of the developing and aging brain oleh Foteini-Dionysia Koufi, Irene Neri, Giulia Ramazzotti, Isabella Rusciano, Sara Mongiorgi, Maria Vittoria Marvi, Antonietta Fazio, Minkyung Shin, Yoichi Kosodo, Ilaria Cani, Elisa Giorgio, Elisa Giorgio, Pietro Cortelli, Pietro Cortelli, Lucia Manzoli, Stefano Ratti

    Diterbitkan 2023-08-01
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  3. 3
    Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study

    Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study oleh Elisa Rubino, Silvia Boschi, Elisa Giorgio, Elisa Pozzi, Andrea Marcinnò, Erica Gallo, Fausto Roveta, Alberto Grassini, Alfredo Brusco, Innocenzo Rainero

    Diterbitkan 2022-01-01
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  4. 4
    Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

    Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient oleh Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

    Diterbitkan 2020-09-01
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  5. 5
    Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

    Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis oleh Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca, Tamara Stampalija

    Diterbitkan 2021-03-01
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  6. 6
    A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

    A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy oleh Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca C. Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J. L. Macario, Francesco Cappello, Mario Giuffrè

    Diterbitkan 2020-10-01
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  7. 7
    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells oleh Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martínez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia R. Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M. T. Greenwood, Anna K. Naumova

    Diterbitkan 2018-02-01
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  8. 8
    Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

    Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation oleh Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann

    Diterbitkan 2023-04-01
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  9. 9
    Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

    Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation oleh Uirá Souto Melo, Jerome Jatzlau, Cesar A. Prada-Medina, Elisabetta Flex, Sunhild Hartmann, Salaheddine Ali, Robert Schöpflin, Laura Bernardini, Andrea Ciolfi, M-Hossein Moeinzadeh, Marius-Konstantin Klever, Aybuge Altay, Pedro Vallecillo-García, Giovanna Carpentieri, Massimo Delledonne, Melanie-Jasmin Ort, Marko Schwestka, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusco, Manfred Gossen, Dirk Strunk, Sven Geißler, Stefan Mundlos, Sigmar Stricker, Petra Knaus, Elisa Giorgio, Malte Spielmann

    Diterbitkan 2023-10-01
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  10. 10
    Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

    Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity oleh Cecilia Mancini, Eriola Hoxha, Luisa Iommarini, Alessandro Brussino, Uwe Richter, Francesca Montarolo, Claudia Cagnoli, Roberta Parolisi, Diana Iulia Gondor Morosini, Valentina Nicolò, Francesca Maltecca, Luisa Muratori, Giulia Ronchi, Stefano Geuna, Francesca Arnaboldi, Elena Donetti, Elisa Giorgio, Simona Cavalieri, Eleonora Di Gregorio, Elisa Pozzi, Marta Ferrero, Evelise Riberi, Giorgio Casari, Fiorella Altruda, Emilia Turco, Giuseppe Gasparre, Brendan J. Battersby, Anna Maria Porcelli, Enza Ferrero, Alfredo Brusco, Filippo Tempia

    Diterbitkan 2019-04-01
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  11. 11
    SLC20A1 Is Involved in Urinary Tract and Urorectal Development

    SLC20A1 Is Involved in Urinary Tract and Urorectal Development oleh Johanna Magdalena Rieke, Johanna Magdalena Rieke, Johanna Magdalena Rieke, Rong Zhang, Doreen Braun, Öznur Yilmaz, Anna S. Japp, Anna S. Japp, Filipa M. Lopes, Michael Pleschka, Michael Pleschka, Alina C. Hilger, Alina C. Hilger, Sophia Schneider, Sophia Schneider, William G. Newman, Glenda M. Beaman, Agneta Nordenskjöld, Agneta Nordenskjöld, Anne-Karoline Ebert, Martin Promm, Wolfgang H. Rösch, Raimund Stein, Karin Hirsch, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Martin Lacher, Dietrich Kluth, Jan-Hendrik Gosemann, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Göran Läckgren, David Keene, Raimondo M. Cervellione, Elisa Giorgio, Elisa Giorgio, Massimo Di Grazia, Wouter F. J. Feitz, Carlo L. M. Marcelis, Iris A. L. M. Van Rooij, Arend Bökenkamp, Goedele M. A. Beckers, Catherine E. Keegan, Catherine E. Keegan, Amit Sharma, Amit Sharma, Tikam Chand Dakal, Lars Wittler, Phillip Grote, Nadine Zwink, Ekkehart Jenetzky, Ekkehart Jenetzky, Alfredo Brusco, Alfredo Brusco, Holger Thiele, Michael Ludwig, Ulrich Schweizer, Adrian S. Woolf, Adrian S. Woolf, Benjamin Odermatt, Benjamin Odermatt, Heiko Reutter, Heiko Reutter

    Diterbitkan 2020-08-01
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  12. 12
    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy oleh Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter

    Diterbitkan 2022-11-01
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