Výsledky vyhledávání - Agata Polizzi

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  1. 1
    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes

    Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, a... Autor Martino Ruggieri, Andrea D. Praticò, Rosario Caltabiano, Agata Polizzi

    Vydáno 2018
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  2. 2
    Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth

    Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth Autor Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri

    Vydáno 2023
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  3. 3
    West syndrome: a comprehensive review

    West syndrome: a comprehensive review Autor Piero Pavone, Agata Polizzi, Simona Domenica Marino, Giovanni Corsello, Raffaele Falsaperla, Silvia Marino, Martino Ruggieri

    Vydáno 2020
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  4. 4
    Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

    Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications Autor Vincenzo Salpietro, Agata Polizzi, Gabriella Di Rosa, Anna Romeo, Valeria Dipasquale, Paolo Morabito, Valeria Chirico, Teresa Arrigo, Martino Ruggieri

    Vydáno 2014
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  5. 5
    Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility

    Investigating the Role of the Zinc Finger Protein ZC2HC1C on Autism Spectrum Disorder Susceptibility Autor Simone Treccarichi, Mirella Vinci, Antonino Musumeci, Rosanna Galati Rando, Carla Papa, Salvatore Saccone, Concetta Federico, Pinella Failla, Martino Ruggieri, Francesco Calı̀, Agata Polizzi, Andrea D. Praticò

    Vydáno 2025
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  6. 6
    Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up

    Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up Autor Francesco Nicita, Martino Ruggieri, Agata Polizzi, Laura Mauceri, Vincenzo Salpietro, Silvana Briuglia, Laura Papetti, Fabiana Ursitti, Salvatore Grosso, Luigi Tarani, Maria Segni, Salvatore Savasta, Pasquale Parisi, Alberto Verrotti, Alberto Spalice

    Vydáno 2012
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  7. 7
    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype?

    Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural History of the Disease or an Expanding Phenotype? Autor Vincenzo Leuzzi, Mario Mastrangelo, Agata Polizzi, Cristiana Artiola, André B. P. Kuilenburg, Carla Carducci, Martino Ruggieri, Rita Barone, Barbara Tavazzi, N. G. G. M. Abeling, Lida Zoetekouw, Vito Sofia, Mario Zappia, Claudia Carducci

    Vydáno 2014
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  8. 8
    ACTA OTORHINOLARYNGOLOGICA ITALICA

    ACTA OTORHINOLARYNGOLOGICA ITALICA Autor Martino Ruggieri, Andrea D. Praticò, Agostino Serra, Luigi Maiolino, Salvatore Cocuzza, Paola Di Mauro, Luisa Licciardello, Pietro Milone, Giuseppe Privitera, Giuseppe Belfiore, Massimo Di Pietro, Francesco Di Raimondo, Alessandra Romano, Annalisa Chiarenza, M. Muglia, Agata Polizzi, D. Gareth Evans

    Vydáno 2016
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