檢索結果 - Rossella Ferrante

Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated 由 Claudia Rossi, Daniela Trotta, Rossella Ferrante, Damiana Pieragostino, Silvia Valentinuzzi, Luca Federici, Liborio Stuppia, Vincenzo De Laurenzi, Maurizio Aricò

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Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease 由 Claudia Rossi, Rossella Ferrante, Silvia Valentinuzzi, Mirco Zucchelli, Carlotta Buccolini, Sara Di Rado, Daniela Trotta, Liborio Stuppia, Luca Federici, Maurizio Aricò

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Pycnodysostosis: Report of Two Novel CTSK Variants in a Child 由 Daniela Trotta, Rossella Ferrante, Michele Sallese, Marianna Viele, Claudia Rossi, Vincenzo Scorrano, Sara Savelli, Milena Catenaro, Vincenzo De Laurenzi, Maurizio Aricò

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Clinical usefulness of NGS multi-gene panel testing in hereditary cancer analysis 由 Federico Anaclerio, Lucrezia Pilenzi, Anastasia Dell’Elice, Rossella Ferrante, Simona Grossi, Luca Maria Ferlito, Camilla Marinelli, Simona Gildetti, Giuseppe Calabrese, Liborio Stuppia, Ivana Antonucci

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Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia 由 Francesca Paola Luongo, Alice Luddi, Rosetta Ponchia, Rossella Ferrante, Sara Di Rado, Eugenio Paccagnini, Mariangela Gentile, Pietro Lupetti, Raffaella Guazzo, Alfredo Orrico, Liborio Stuppia, Paola Piomboni, Paola Piomboni

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A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study 由 Rossella Ferrante, Stefano Tumini, Maria Alessandra Saltarelli, Sara Di Rado, Vincenzo Scorrano, Maria Lucia Tommolini, Mirco Zucchelli, Federico Lauriola, Gabriele Lisi, Giuseppe Lauriti, Nino Marino, Liborio Stuppia, Claudia Rossi, Ines Bucci

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