Hasil Pencarian - Marco Seri

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  1. 1
    Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism

    Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Inte... oleh Emanuele Panza, Diego Martinelli, Pamela Magini, Carlo Dionisi Vici, Marco Seri

    Diterbitkan 2019-02-01
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  2. 2
    AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics

    AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics oleh Alberto Magi, Tania Giangregorio, Roberto Semeraro, Giulia Carangelo, Flavia Palombo, Giovanni Romeo, Marco Seri, Tommaso Pippucci

    Diterbitkan 2020-01-01
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  3. 3
    Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis

    Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis oleh Giovanni Vitale, Alessandro Mattiaccio, Amalia Conti, Sonia Berardi, Vittoria Vero, Laura Turco, Marco Seri, Maria Cristina Morelli

    Diterbitkan 2023-03-01
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  4. 4
    Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC

    Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC oleh Serena Barozzi, Christian A. Di Buduo, Caterina Marconi, Valeria Bozzi, Marco Seri, Francesca Romano, Alessandra Balduini, Alessandro Pecci

    Diterbitkan 2020-09-01
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  5. 5
    Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only

    Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only oleh Emanuela Iovino, Luca Scapoli, Annalisa Palmieri, Rossella Sgarzani, Nayereh Nouri, Agnese Pellati, Francesco Carinci, Marco Seri, Tommaso Pippucci, Marcella Martinelli

    Diterbitkan 2023-01-01
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  6. 6
    Exploration of Tools for the Interpretation of Human Non-Coding Variants

    Exploration of Tools for the Interpretation of Human Non-Coding Variants oleh Nicole Tabarini, Elena Biagi, Paolo Uva, Emanuela Iovino, Tommaso Pippucci, Marco Seri, Andrea Cavalli, Isabella Ceccherini, Marta Rusmini, Federica Viti

    Diterbitkan 2022-10-01
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  7. 7
    Inherited Retinal Diseases Due to <i>RPE65</i> Variants: From Genetic Diagnostic Management to Therapy

    Inherited Retinal Diseases Due to <i>RPE65</i> Variants: From Genetic Diagnostic Management to Therapy oleh Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Sandro Banfi

    Diterbitkan 2021-07-01
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  8. 8
    Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration

    Immune cytopenias as a continuum in inborn errors of immunity: An in‐depth clinical and immunological exploration oleh Daniele Zama, Francesca Conti, Mattia Moratti, Maria E. Cantarini, Elena Facchini, Beatrice Rivalta, Roberto Rondelli, Arcangelo Prete, Simona Ferrari, Marco Seri, Andrea Pession

    Diterbitkan 2021-06-01
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  9. 9
    P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

    P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9 oleh Pamela Magini, Clara Marco‐Marin, Juan M. Escamilla‐Honrubia, Diego Martinelli, Carlo Dionisi-Vici, Francesca Faravelli, Francesca Forzano, Marco Seri, Vicente Rubio, Emanuele Panza

    Diterbitkan 2019-08-01
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  10. 10
    A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

    A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. oleh Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valerio Carelli

    Diterbitkan 2013-01-01
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  11. 11
    5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

    5’UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia oleh Caterina Marconi, Ilaria Canobbio, Valeria Bozzi, Tommaso Pippucci, Giorgia Simonetti, Federica Melazzini, Silvia Angori, Giovanni Martinelli, Giuseppe Saglio, Mauro Torti, Ira Pastan, Marco Seri, Alessandro Pecci

    Diterbitkan 2017-01-01
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  12. 12
    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation

    Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation oleh Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci, Anna Savoia, Roberta Bottega

    Diterbitkan 2021-01-01
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  13. 13
    Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations

    Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations oleh Anna Savoia, Carlo Dufour, Franco Locatelli, Patrizia Noris, Chiara Ambaglio, Vittorio Rosti, Marco Zecca, Simona Ferrari, Filomena di Bari, Anna Corcione, Mariateresa Di Stazio, Marco Seri, Carlo L. Balduini

    Diterbitkan 2007-09-01
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  14. 14
    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21 oleh Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebjærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido Cocchi

    Diterbitkan 2019-08-01
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  15. 15
    Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report

    Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report oleh Federica Isidori, Deborah Malvi, Silvia Fittipaldi, Claudio Forcato, Isotta Bozzarelli, Claudia Sala, Giovanni Raulli, Antonia D’Errico, Michelangelo Fiorentino, Marco Seri, Kausilia K. Krishnadath, Elena Bonora, Sandro Mattioli, EAC-BAGH group

    Diterbitkan 2018-09-01
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  16. 16
    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association

    Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association oleh Maria Chiara Pelleri, Chiara Locatelli, Teresa Mattina, Maria Clara Bonaglia, Francesca Piazza, Pamela Magini, Francesca Antonaros, Giuseppe Ramacieri, Beatrice Vione, Lorenza Vitale, Marco Seri, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Maria Caracausi

    Diterbitkan 2022-12-01
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  17. 17
    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report

    A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report oleh Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Michaela V. Gonfiantini, Fabiana Cortellessa, Cristina Caciolo, Marcella Zollino, Maria Accadia, Marco Seri, Marcello Chinali, Corrado Mammì, Marco Tartaglia, Andrea Bartuli, Paolo Alfieri, Manuela Priolo

    Diterbitkan 2022-06-01
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  18. 18
    Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

    Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup oleh Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Elena Nardi, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L. Balduini, Anna Savoia, Marco Seri, Patrizia Noris, Tommaso Pippucci

    Diterbitkan 2022-12-01
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  19. 19
    Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

    Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q oleh Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora

    Diterbitkan 2023-07-01
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  20. 20
    Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

    Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy N... oleh Anna Morgan, Stefania Lenarduzzi, Stefania Cappellani, Vanna Pecile, Marcello Morgutti, Eva Orzan, Sara Ghiselli, Umberto Ambrosetti, Marco Brumat, Poornima Gajendrarao, Martina La Bianca, Flavio Faletra, Enrico Grosso, Fabio Sirchia, Alberto Sensi, Claudio Graziano, Marco Seri, Paolo Gasparini, Paolo Gasparini, Giorgia Girotto, Giorgia Girotto

    Diterbitkan 2018-12-01
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