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A novel homozygous splice site variant in ARL2BP causes a syndromic autosomal recessive rod-cone dystrophy with situs inversus, asthenozoospermia, unilateral renal agenesis and mic... by Giorgio Placidi, Elena D’Agostino, Paolo Enrico Maltese, Maria Cristina Savastano, Gloria Gambini, Stanislao Rizzo, Gabriele Bonetti, Matteo Bertelli, Pietro Chiurazzi, Benedetto Falsini
Published 2024-04-01
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Ocular Morpho-Functional Evaluation in ATTRv Pre-Symptomatic Carriers: A Case Series by Martina Maceroni, Benedetto Falsini, Marco Luigetti, Angela Romano, Valeria Guglielmino, Romina Fasciani, Giorgio Placidi, Elena D’Agostino, Paola Sasso, Stanislao Rizzo, Angelo Maria Minnella
Published 2023-01-01
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Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy by Giorgio Placidi, Paolo Enrico Maltese, Maria Cristina Savastano, Elena D’Agostino, Valentina Cestrone, Matteo Bertelli, Pietro Chiurazzi, Martina Maceroni, Angelo Maria Minnella, Lucia Ziccardi, Vincenzo Parisi, Stanislao Rizzo, Benedetto Falsini
Published 2023-02-01
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