Search Results - Anne Mandy

The Perception of Disability Among Mothers Living With a Child With Cerebral Palsy in Saudi Arabia by Sanaa Mohamed Madi, Anne Mandy, Kay Aranda

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Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital by Ettore Piro, Gregorio Serra, Ingrid Anne Mandy Schierz, Mario Giuffrè, Giovanni Corsello

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A percepção de qualidade de vida de pessoas com deficiência motora: diferenças entre cadeirantes e deambuladores by Fabiola Hermes Chesani, Tatiana Mezadri, Leo Lynce Valle de Lacerda, Anne Mandy, Francielly Nalin

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Growth patterns and associated risk factors of congenital malformations in twins by Ettore Piro, Ingrid Anne Mandy Schierz, Gregorio Serra, Giuseppe Puccio, Mario Giuffrè, Giovanni Corsello

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Recognizable neonatal clinical features of aplasia cutis congenita by Ingrid Anne Mandy Schierz, Mario Giuffrè, Antonello Del Vecchio, Vincenzo Antona, Giovanni Corsello, Ettore Piro

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Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses by Ingrid Anne Mandy Schierz, Mario Giuffrè, Ettore Piro, Maria Clara Leone, Giuseppa Pinello, Giovanni Corsello

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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder by Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello

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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene by Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic pro... by Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation by Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra, Giovanni Corsello

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Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report by Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro

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Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study by Giovanni Savarino, Maurizio Carta, Marcello Cimador, Antonio Corsello, Mario Giuffrè, Ingrid Anne Mandy Schierz, Gregorio Serra, Giovanni Corsello

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Early intestinal perforation secondary to congenital mesenteric defects by Ingrid Anne Mandy Schierz, Mario Giuffrè, Mariaserena Lo Presti, Giuseppa Pinello, Cinzia Chiaramonte, Enrica Maria Agosta Cecala, Giovanni Corsello

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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis by Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up by Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient by Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

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New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception by Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè, Giovanni Corsello

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Report and follow-up on two new patients with congenital mesoblastic nephroma by Gregorio Serra, Marcello Cimador, Mario Giuffrè, Vincenzo Insinga, Claudio Montante, Marco Pensabene, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello

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Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report by Ingrid Anne Mandy Schierz, Mario Giuffrè, Marcello Cimador, Maria Michela D'Alessandro, Gregorio Serra, Federico Favata, Vincenzo Antona, Ettore Piro, Giovanni Corsello

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Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome by Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D'Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro

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