Resultados da busca - Garavelli, Livia

Mowat-Wilson syndrome por Garavelli, Livia, Mainardi, Paola Cerruti

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Current themes in molecular pediatrics: molecular medicine and its applications por Superti-Furga, Andrea, Garavelli, Livia

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Clinical utility gene card for: Mowat–Wilson syndrome por Zollino, Marcella, Garavelli, Livia, Rauch, Anita

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Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis por Ivanovski, Ivan, Ješić, Miloš, Ivanovski, Ana, Garavelli, Livia, Ivanovski, Petar

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AB022. External quality assessment of clinical genetics: from pilot assessment to full external quality assurance scheme por Hastings, Rosalind, van Ravenswaaij-Arts, Conny, van Asperen, Christi, Peterlin, Borut, Garavelli, Livia

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Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients por Spunton, Marianna, Garavelli, Livia, Mainardi, Paola Cerutti, Emmig, Uta, Finale, Enrico, Guala, Andrea

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Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders por Rinaldi, Berardo, Villa, Roberta, Sironi, Alessandra, Garavelli, Livia, Finelli, Palma, Bedeschi, Maria Francesca

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Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study por Vinceti, Marco, Malagoli, Carlotta, Fabbi, Sara, Teggi, Sergio, Rodolfi, Rossella, Garavelli, Livia, Astolfi, Gianni, Rivieri, Francesca

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Neurological Phenotype of Mowat-Wilson Syndrome por Cordelli, Duccio Maria, Di Pisa, Veronica, Fetta, Anna, Garavelli, Livia, Maltoni, Lucia, Soliani, Luca, Ricci, Emilia

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Variable Expressivity of the Beckwith-Wiedemann Syndrome in Four Pedigrees Segregating Loss-of-Function Variants of CDKN1C por Sparago, Angela, Cerrato, Flavia, Pignata, Laura, Cammarata-Scalisi, Francisco, Garavelli, Livia, Piscopo, Carmelo, Vancini, Alessandra, Riccio, Andrea

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MCPH1: A Novel Case Report and a Review of the Literature por Caraffi, Stefano Giuseppe, Pollazzon, Marzia, Farooq, Muhammad, Fatima, Ambrin, Larsen, Lars Allan, Zuntini, Roberta, Napoli, Manuela, Garavelli, Livia

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Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females por Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia

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Incontinentia Pigmenti: Learning Disabilities Are a Fundamental Hallmark of the Disease por Pizzamiglio, Maria Rosa, Piccardi, Laura, Bianchini, Filippo, Canzano, Loredana, Palermo, Liana, Fusco, Francesca, D'Antuono, Giovanni, Gelmini, Chiara, Garavelli, Livia, Ursini, Matilde Valeria

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A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia por Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea

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Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS por Dauwerse, Johannes G, van Belzen, Martine, van Haeringen, Arie, van Santen, Gijs, van de Lans, Christian, Rahikkala, Elisa, Garavelli, Livia, Breuning, Martijn, Hennekam, Raoul, Peters, Dorien

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Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations por Ritelli, Marco, Dordoni, Chiara, Venturini, Marina, Chiarelli, Nicola, Quinzani, Stefano, Traversa, Michele, Zoppi, Nicoletta, Vascellaro, Annalisa, Wischmeijer, Anita, Manfredini, Emanuela, Garavelli, Livia, Calzavara-Pinton, Piergiacomo, Colombi, Marina

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Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I por Bonatti, Francesco, Adorni, Alessia, Matichecchia, Annalisa, Mozzoni, Paola, Uliana, Vera, Pisani, Francesco, Garavelli, Livia, Graziano, Claudio, Gnoli, Maria, Carli, Diana, Bigoni, Stefania, Boschi, Elena, Martorana, Davide, Percesepe, Antonio

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The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects por Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea

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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 por Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Di Rocco, Maja, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia

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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature por Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia

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