Mowat-Wilson syndrome

por Garavelli, Livia, Mainardi, Paola Cerruti
Publicado 2007

Current themes in molecular pediatrics: molecular medicine and its applications

por Superti-Furga, Andrea, Garavelli, Livia
Publicado 2010

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
Publicado 2017

Anesthesia in Mowat-Wilson syndrome: information on 11 Italian patients

por Spunton, Marianna, Garavelli, Livia, Mainardi, Paola Cerutti, Emmig, Uta, Finale, Enrico, Guala, Andrea
Publicado 2018

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

por Rinaldi, Berardo, Villa, Roberta, Sironi, Alessandra, Garavelli, Livia, Finelli, Palma, Bedeschi, Maria Francesca
Publicado 2022

Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia

por Sassi, Silvia, Faccioli, Silvia, Farella, Giuseppina Mariagrazia, Tedeschi, Roberto, Garavelli, Livia, Benedetti, Maria Grazia
Publicado 2022

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
Publicado 2009

Neurological Phenotype of Mowat-Wilson Syndrome

por Cordelli, Duccio Maria, Di Pisa, Veronica, Fetta, Anna, Garavelli, Livia, Maltoni, Lucia, Soliani, Luca, Ricci, Emilia
Publicado 2021

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
Publicado 2021

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
Publicado 2022

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
Publicado 2021

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population

por Spedicati, Beatrice, Santin, Aurora, Nardone, Giuseppe Giovanni, Rubinato, Elisa, Lenarduzzi, Stefania, Graziano, Claudio, Garavelli, Livia, Miccoli, Sara, Bigoni, Stefania, Morgan, Anna, Girotto, Giorgia
Publicado 2023

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
Publicado 2014

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature

por Trevisani, Viola, Balestri, Eleonora, Napoli, Manuela, Caraffi, Stefano Giuseppe, Baroni, Maria Chiara, Peluso, Francesca, Colonna, Anna, Iughetti, Lorenzo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2023

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
Publicado 2021

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
Publicado 2013

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
Publicado 2017

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
Publicado 2021

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
Publicado 2019

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

por Cesaroni, Carlo Alberto, Pollazzon, Marzia, Mancini, Cecilia, Rizzi, Susanna, Cappelletti, Camilla, Pizzi, Simone, Frattini, Daniele, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Niceta, Marcello, Radio, Francesca Clementina, Tartaglia, Marco, Garavelli, Livia, Fusco, Carlo
Publicado 2023