Hasil Pencarian - Maria Iascone

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  1. 1
    Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

    Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature oleh Barbara Scelsa, Serena Gasperini, Andrea Righini, Maria Iascone, Valeria G. Brazzoduro, Pierangelo Veggiotti

    Diterbitkan 2019-06-01
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  2. 2
    Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

    Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome oleh Catia Mio, Federico Fogolari, Laura Pezzoli, Angela V. D’Elia, Maria Iascone, Giuseppe Damante

    Diterbitkan 2020-07-01
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  3. 3
    ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

    ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype oleh Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi

    Diterbitkan 2024-03-01
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  4. 4
    Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

    Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene oleh Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone

    Diterbitkan 2017-10-01
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  5. 5
    Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature

    Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature oleh Sebastian Militaru, Robert Adam, Lucian Dorobantu, Paolo Ferrazzi, Maria Iascone, Viorica Radoi, Gener Ismail, Bogdan A. Popescu, Ruxandra Jurcut

    Diterbitkan 2019-08-01
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  6. 6
    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

    Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome oleh Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi

    Diterbitkan 2024-05-01
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  7. 7
    Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants

    Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants oleh Roberto Previtali, Alessia Leidi, Martina Basso, Giana Izzo, Cecilia Stignani, Luigina Spaccini, Maria Iascone, Pierangelo Veggiotti, Pierangelo Veggiotti, Stefania Maria Bova

    Diterbitkan 2023-07-01
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  8. 8
    Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia

    Compound heterozygous TRMU gene mutations in an infant with transient cholestasis and hyperlactatemia oleh Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini

    Diterbitkan 2024-02-01
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  9. 9
    A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

    A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement oleh Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich

    Diterbitkan 2021-09-01
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  10. 10
    A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

    A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. oleh Maria Elena Sana, Lawrence A Quilliam, Andrea Spitaleri, Laura Pezzoli, Daniela Marchetti, Chiara Lodrini, Elisabetta Candiago, Anna Rita Lincesso, Paolo Ferrazzi, Maria Iascone

    Diterbitkan 2016-01-01
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  11. 11
    Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

    Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature oleh Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli

    Diterbitkan 2022-03-01
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  12. 12
    Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 2

    Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 2 oleh Giovanni Quarta, Raffaele Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Maria Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto, Michele Senni

    Diterbitkan 2016-10-01
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  13. 13
    Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 1

    Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 1 oleh Giovanni Quarta, Raffale Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Maria Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto, Michele Senni

    Diterbitkan 2016-10-01
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  14. 14
    Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome

    Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome oleh Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli, Palma Finelli

    Diterbitkan 2024-03-01
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  15. 15
    A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

    A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis oleh Valentina Spinelli, Francesca Girolami, Chiara Marrone, Veronica Consigli, Maria Iascone, Silvia Passantino, Giulio Porcedda, Giovanni Battista Calabri, Luciano De Simone, Iacopo Olivotto, Giuseppe Santoro, Silvia Favilli

    Diterbitkan 2020-12-01
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  16. 16
    Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

    Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? oleh Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi

    Diterbitkan 2022-08-01
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  17. 17
    <i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort

    <i>DSP</i>-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort oleh Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calò, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo

    Diterbitkan 2023-01-01
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  18. 18
    Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

    Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense <i>RNF213</i> Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literatu... oleh Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D’Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Marco Carotenuto, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso

    Diterbitkan 2022-08-01
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  19. 19
    Menkes disease complicated by concurrent ACY1 deficiency: A case report

    Menkes disease complicated by concurrent ACY1 deficiency: A case report oleh Alessia Mauri, Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda

    Diterbitkan 2023-03-01
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  20. 20
    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

    Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature oleh Irene Picciolli, Angelo Ratti, Berardo Rinaldi, Anwar Baban, Maria Iascone, Gaia Francescato, Alessia Cappelleri, Monia Magliozzi, Antonio Novelli, Giovanni Parlapiano, Anna Maria Colli, Nicola Persico, Stefano Carugo, Fabio Mosca, Maria Francesca Bedeschi

    Diterbitkan 2024-08-01
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