Resultados de búsqueda - Marco Seri

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  1. 1
    Inherited thrombocytopenias frequently diagnosed in adults

    Inherited thrombocytopenias frequently diagnosed in adults por Carlo L. Balduini, Anna Savoia, Marco Seri

    Publicado 2013
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  2. 2
    Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis

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

    Publicado 2023
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  3. 3
    Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome

    Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome por Elena Belloni, Giuseppe Martucciello, Daniele Verderio, E. Ponti, Marco Seri, Vincenzo Jasonni, Michele Torre, Maurizio Ferrari, L.-C. Tsui, Stephen W. Scherer

    Publicado 2000
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  4. 4
    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 por Tommaso Pippucci, Antonia Parmeggiani, Flavia Palombo, Alessandra Maresca, Andrea Angius, Laura Crisponi, Francesco Cucca, Rocco Liguori, Maria Lucia Valentino, Marco Seri, Valério Carelli

    Publicado 2013
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  5. 5
    Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype

    Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype por Maria Chiara Pelleri, Elena Cicchini, Chiara Locatelli, Lorenza Vitale, Maria Caracausi, Allison Piovesan, Alessandro Rocca, Giulia Poletti, Marco Seri, Pierluigi Strippoli, Guido Cocchi

    Publicado 2016
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  6. 6
    Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

    Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene por Chiara Pescucci, Francesca Mari, Ilaria Longo, Paraskevi Vogiatzi, Rossella Caselli, Elisa Scala, Cataldo Abaterusso, R Gusmano, Marco Seri, Nunzia Miglietti, Elena Bresin, Alessandra Renieri

    Publicado 2004
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  7. 7
    <i>H</i> 3 <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data

    <i>H</i> 3 <i>M</i> 2 : detection of runs of homozygosity from whole-exome sequencing data por Alberto Magi, Lorenzo Tattini, Flavia Palombo, Matteo Benelli, Alessandro Gialluisi, Betti Giusti, Rosanna Abbate, Marco Seri, Gian Franco Gensini, G. Cara Romeo, Tommaso Pippucci

    Publicado 2014
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  8. 8
    SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2

    SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 por Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera, Stefano Di Donato, Alfredo Brusco

    Publicado 2005
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  9. 9
    Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31

    Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31 por Francesca Bisulli, Ilaria Naldi, Sara Baldassari, Pamela Magini, Laura Licchetta, Giovanni Castegnaro, Margherita Fabbri, Carlotta Stipa, Simona Ferrari, Marco Seri, Gilson Edmar Gonçalves Silva, Paolo Tinuper, Tommaso Pippucci

    Publicado 2014
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  10. 10
    MEFV mutations in Beh�et's disease

    MEFV mutations in Beh�et's disease por Isabelle Touitou, Xavier Magne, Nicolas Molinari, Andr� Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Özen, Ayşı̇n Bakkaloğlu, Ayşen Karaduman, J.M. Garnier, Jacques Demaille, Isabelle Kon�-Paut

    Publicado 2000
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  11. 11
    Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

    Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis por Gianluca Caridi, Roberta Bertelli, Alba Carrea, Marco Di Duca, Paolo Catarsi, Mary Artero, Michele Carraro, Cristina Zennaro, Giovanni Candiano, Luca Musante, Marco Seri, Fabrizio Ginevri, Francesco Perfumo, Gian Marco Ghiggeri

    Publicado 2001
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  12. 12
    A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

    A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree por Caterina Marconi, Paolo Brunamonti Binello, Giovanni Badiali, Emanuela Caci, Roberto Cusano, Joseph Garibaldi, Tommaso Pippucci, Alberto Merlini, Claudio Marchetti, Kerry J. Rhoden, Luis J. V. Galietta, Faustina Lalatta, P Balbi, Marco Seri

    Publicado 2012
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  13. 13
    Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy

    Genetic Mapping to 10q23.3-q24.2, in a Large Italian Pedigree, of a New Syndrome Showing Bilateral Cataracts, Gastroesophageal Reflux, and Spastic Paraparesis with Amyotrophy por Marco Seri, Roberto Cusano, Paola Forabosco, R. Cinti, Francesco Caroli, Paolo Picco, Rita Bini, Vincenzo Brescia Morra, Giuseppe De Michele, Margherita Lerone, Margherita Silengo, Ivana Pela, C Borrone, Giovanni Romeo, Marcella Devoto

    Publicado 1999
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  14. 14
    ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

    ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization por Roberta Bottega, Caterina Marconi, Michela Faleschini, Gabriele Baj, Claudia Cagioni, Alessandro Pecci, Tommaso Pippucci, Ugo Ramenghi, Simonetta Pardini, Loretta Ngu, Carlo Baronci, Shinji Kunishima, Carlo L. Balduini, Marco Seri, Anna Savoia, Patrizia Noris

    Publicado 2014
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  15. 15
    Epilepsy with auditory features

    Epilepsy with auditory features por Tommaso Pippucci, Laura Licchetta, Sara Baldassari, Flavia Palombo, Veronica Menghi, Romina D’Aurizio, Chiara Leta, Carlotta Stipa, Giovanni Boero, G. D’Orsi, Alberto Magi, Ingrid E. Scheffer, Marco Seri, Paolo Tinuper, Francesca Bisulli

    Publicado 2015
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  16. 16
    Prucalopride exerts neuroprotection in human enteric neurons

    Prucalopride exerts neuroprotection in human enteric neurons por Francesca Bianco, Elena Bonora, Dipa Natarajan, Manuela Vargiolu, Nikhil Thapar, F. Torresan, Fiorella Giancola, Elisa Boschetti, Umberto Volta, Franco Bazzoli, Maurizio Mazzoni, Marco Seri, Paolo Clavenzani, Vincenzo Stanghellini, Catia Sternini, Roberto De Giorgio

    Publicado 2016
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  17. 17
    MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

    MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever por Andrea D’Osualdo, Paolo Picco, Francesco Caroli, Marco Gattorno, R. Giacchino, P Fortini, Fabrizia Corona, Alberto Tommasini, Giuseppe Salvi, Fernando Specchia, Laura Obici, Jordi Antón, Antônio Ricci, Marco Seri, Roberto Ravazzolo, Alberto Martini, Isabella Ceccherini

    Publicado 2004
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  18. 18
    EXCAVATOR: detecting copy number variants from whole-exome sequencing data

    EXCAVATOR: detecting copy number variants from whole-exome sequencing data por Alberto Magi, Lorenzo Tattini, Ingrid Cifola, Romina D’Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia, Elena Bonora, Ants Kurg, Marco Seri, Pamela Magini, Betti Giusti, G. Cara Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate, Gian Franco Gensini

    Publicado 2013
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  19. 19
    Homozygous <scp>NOTCH</scp> 3 null mutation and impaired <scp>NOTCH</scp> 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy

    Homozygous <scp>NOTCH</scp> 3 null mutation and impaired <scp>NOTCH</scp> 3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy por Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valério Carelli, Marco Seri

    Publicado 2015
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  20. 20
    Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

    Heavy chain myosin 9-related disease (MYH9-RD): Neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder por Daniela De Rocco, Emanuele Panza, Valeria Bozzi, Raffaella Scandellari, Giuseppe Loffredo, Andrew Mumford, Paula G. Heller, Patrizia Noris, Marco de Groot, Marisa Giani, P Freddi, Francesca Scognamiglio, Silvia Riondino, Núria Pujol‐Moix, Fabrizio Fabris, Marco Seri, Carlo Balduini, Alessandro Pecci, Anna Savoia

    Publicado 2010
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