Search Results - "Scarinci, Renato"

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G by Zannolli, Raffaella, Buoni, Sabrina, Macucci, Francesca, Scarinci, Renato, Viviano, Massimo, Orsi, Alessandra, de Aloe, Giovanni, Fimiani, Michele, Volterrani, Luca, de Santi, Maria M., Miracco, Clelia, Zappella, Michele, Hayek, Joseph

“…We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of…”
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New neurocutaneous syndrome with defect in cell trafficking and melanosome pathway: The future challenge by Zannolli, Raffaella, Buoni, Sabrina, de Santi, Margherita, Miracco, Clelia, Vonella, Giuseppina, Tassini, Maria, Vivi, Antonio, Viviano, Massimo, Rossi, Tiziana, Orsi, Alessandra, Scarinci, Renato, D’Ambrosio, Alfonso, Livi, Walter, Volterrani, Luca, Fois, Alberto, Willems, Patrick, Hayek, Joseph

“…Abstract Objective: Case study of a CNS impairment lacking in presumptive cause; case presents with a clinical phenotype encompassing multiple differently…”
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Re-evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more by Centini, Giovanni, Rosignoli, Lucia, Scarinci, Renato, Faldini, Elisa, Morra, Carmina, Centini, Gabriele, Petraglia, Felice

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Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations A review by GROSSO, Salvatore, PUCCI, Lucia, CURATOLO, Paolo, COPPOLA, Giangennaro, BARTALINI, Gabriella, DI BARTOLO, Rosanna, SCARINCI, Renato, RENIERI, Alessandra, BALESTRI, Paolo

“…Epilepsy and electroencephalographic (EEG) anomalies are common in subjects carrying chromosomal aberrations. We report clinical and EEG investigations on 13…”
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Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations by Grosso, Salvatore, Pucci, Lucia, Curatolo, Paolo, Coppola, Giangennaro, Bartalini, Gabriella, Di Bartolo, Rosanna, Scarinci, Renato, Renieri, Alessandra, Balestri, Paolo

“…Summary Epilepsy and electroencephalographic (EEG) anomalies are common in subjects carrying chromosomal aberrations. We report clinical and EEG investigations…”
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Re‐evaluation of risk for Down syndrome by means of the combined test in pregnant women of 35 years or more by Centini, Giovanni, Rosignoli, Lucia, Scarinci, Renato, Faldini, Elisa, Morra, Carmina, Centini, Gabriele, Petraglia, Felice

“…Objective Evaluation of combined test in pregnant women 35 years of age and over to detect fetal Down syndrome. Materials and Methods The study population…”
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Association of microphthalmia and esophageal atresia: Description of a patient and review of the literature by Messina, Mario, Ferrucci, Elisabetta, Buonocore, Giuseppe, Scarinci, Renato, Garzi, Alfredo

“…Since 1988, when Rogers first described a boy with anophthalmia associated with esophageal atresia, eight similar cases have been reported. These patients lend…”
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Association of microphthalmia and esophageal atresia: Description of a patient and review of the literature by Messina, Mario, Ferrucci, Elisabetta, Buonocore, Giuseppe, Scarinci, Renato, Garzi, Alfredo

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