Suchergebnisse - Garavelli, Livia

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

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

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

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Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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 von 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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