Hasil Pencarian - Angela Peron

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  1. 1
    Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes

    Ring Chromosome 20 Syndrome: Genetics, Clinical Characteristics, and Overlapping Phenotypes oleh Angela Peron, Angela Peron, Angela Peron, Ilaria Catusi, Maria Paola Recalcati, Luciano Calzari, Lidia Larizza, Aglaia Vignoli, Maria Paola Canevini

    Diterbitkan 2020-12-01
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  2. 2
    Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

    Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies oleh Chiara Parodi, Elisabetta Di Fede, Angela Peron, Angela Peron, Angela Peron, Ilaria ViganĂ², Paolo Grazioli, Silvia Castiglioni, Richard H. Finnell, Cristina Gervasini, Cristina Gervasini, Aglaia Vignoli, Valentina Massa, Valentina Massa

    Diterbitkan 2021-04-01
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  3. 3
    Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study

    Exploring the Role of Matrix Metalloproteinases as Biomarkers in Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex. A Pilot Study oleh Silvia Terraneo, Silvia Terraneo, Elena Lesma, Silvia Ancona, Gianluca Imeri, Giuseppina Palumbo, Giuseppina Palumbo, Olga Torre, Olga Torre, Lisa Giuliani, Stefano Centanni, Stefano Centanni, Angela Peron, Angela Peron, Angela Peron, Silvia Tresoldi, Paola Cetrangolo, Fabiano Di Marco

    Diterbitkan 2021-04-01
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  4. 4
    P566: Global genetic health assessment project: Let's not leave anyone behind

    P566: Global genetic health assessment project: Let's not leave anyone behind oleh Aya Abu-El-Haija, Stacey Cook, Nathan Keegan, Angela Peron

    Diterbitkan 2024-01-01
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  5. 5
    The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1

    The TAND checklist: a useful screening tool in children with tuberous sclerosis and neurofibromatosis type 1 oleh Francesca Cervi, Veronica Saletti, Katherine Turner, Angela Peron, Sara Bulgheroni, Matilde Taddei, Francesca La Briola, Maria Paola Canevini, Aglaia Vignoli

    Diterbitkan 2020-09-01
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  6. 6
    Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway?

    Lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, and sarcoidosis: more pathological findings in the same chest CT, or a single pathological pathway? oleh Fabiano Di Marco, Giuseppina Palumbo, Silvia Terraneo, Gianluca Imeri, Elena Lesma, Nicola Sverzellati, Angela Peron, Lorenzo Gualandri, Maria Paola Canevini, Stefano Centanni

    Diterbitkan 2017-07-01
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  7. 7
    Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

    Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? oleh Monika SÅ‚owiÅ„ska, Sergiusz JĂ³Åºwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-JĂ³Åºwiak

    Diterbitkan 2018-01-01
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  8. 8
    Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

    Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants oleh Sara Perego, Valentina Alari, Gianluca Pietra, Andrea Lamperti, Alessandro Vimercati, Nicole Camporeale, Maria Garzo, Francesca Cogliati, Donatella Milani, Aglaia Vignoli, Angela Peron, Lidia Larizza, Tommaso Pizzorusso, Silvia Russo

    Diterbitkan 2022-11-01
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  9. 9
    Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

    Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature oleh Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

    Diterbitkan 2024-10-01
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  10. 10
    Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis.

    Women with TSC: Relationship between Clinical, Lung Function and Radiological Features in a Genotyped Population Investigated for Lymphangioleiomyomatosis. oleh Fabiano Di Marco, Silvia Terraneo, Gianluca Imeri, Giuseppina Palumbo, Francesca La Briola, Silvia Tresoldi, Angela Volpi, Lorenzo Gualandri, Filippo Ghelma, Rosa Maria Alfano, Emanuele Montanari, Alfredo Gorio, Elena Lesma, Angela Peron, Maria Paola Canevini, Stefano Centanni

    Diterbitkan 2016-01-01
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  11. 11
    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

    O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions oleh Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

    Diterbitkan 2023-01-01
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  12. 12
    Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights

    Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights oleh Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo

    Diterbitkan 2024-07-01
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  13. 13
    Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

    Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes oleh Francesca Cogliati, Valentina Giorgini, Maura Masciadri, Maria Teresa Bonati, Margherita Marchi, Irene Cracco, Davide Gentilini, Angela Peron, Miriam Nella Savini, Luigina Spaccini, Barbara Scelsa, Silvia Maitz, Edvige Veneselli, Giulia Prato, Maria Pintaudi, Isabella Moroni, Aglaia Vignoli, Lidia Larizza, Silvia Russo

    Diterbitkan 2019-07-01
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  14. 14
    Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

    Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study oleh Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco

    Diterbitkan 2024-01-01
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  15. 15
    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity

    P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity oleh Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

    Diterbitkan 2023-01-01
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  16. 16
    Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

    Expanding the Molecular Spectrum of <i>ANKRD11</i> Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome oleh Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli

    Diterbitkan 2022-05-01
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