Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature
Ghiselli, Sara, Parmeggiani, Giulia, Zambonini, Giulia, Cuda, Domenico
Published in Journal of clinical medicine (01.03.2024)
Published in Journal of clinical medicine (01.03.2024)
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Journal Article
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome
Innoceta, Anna Maria, Olivucci, Giulia, Parmeggiani, Giulia, Scarano, Emanuela, Pragliola, Antonella, Graziano, Claudio
Published in Genes (19.01.2023)
Published in Genes (19.01.2023)
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Journal Article
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome
Gualandi, Francesca, Zaraket, Fatima, Malagù, Michele, Parmeggiani, Giulia, Trabanelli, Cecilia, Fini, Sergio, Dang, Xiao, Wei, Xiaoming, Fang, Mingyan, Bertini, Matteo, Ferrari, Roberto, Ferlini, Alessandra
Published in Cardiology (01.01.2017)
Published in Cardiology (01.01.2017)
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Journal Article
Prenatal genetic counselling: issues and perspectives for pre-conceptional health care in Emilia Romagna (Northern Italy)
Lucci, Marco, Astolfi, Gianni, Bigoni, Stefania, Baroncini, Anna, Calabrese, Olga, Ferlini, Alessandra, Parmeggiani, Giulia, Pompili, Eva, Seri, Marco, Calzolari, Elisa
Published in Epidemiology, biostatistics, and public health (01.01.2014)
Published in Epidemiology, biostatistics, and public health (01.01.2014)
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Journal Article
Fetal Presentation of Walker-Warburg Syndrome with Compound Heterozygous POMT2 Missense Mutations
Zago, Silvia, Silvestri, Evelina, Arcangeli, Tiziana, Calisesi, Marina, Romeo, Chiara, Parmeggiani, Giulia, Parrini, Elena, Cetica, Valentina, Guerrini, Renzo, Palicelli, Andrea, Bonasoni, Maria Paola
Published in Fetal and pediatric pathology (04.03.2023)
Published in Fetal and pediatric pathology (04.03.2023)
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Journal Article
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature
Parmeggiani, Giulia, Buldrini, Barbara, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania
Published in Molecular syndromology (01.07.2018)
Published in Molecular syndromology (01.07.2018)
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Journal Article
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-François, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien
Published in Journal of medical genetics (01.12.2017)
Published in Journal of medical genetics (01.12.2017)
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Journal Article
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay
Parmeggiani, Giulia, Bigoni, Stefania, Buldrini, Barbara, Garani, Giampaolo, Clauser, Luigi, Galiè, Manilo, Ferlini, Alessandra, Fini, Sergio
Published in Molecular syndromology (01.12.2017)
Published in Molecular syndromology (01.12.2017)
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Journal Article
Genetic counseling for women referred for advanced maternal age: a telegenetic approach
Gualandi, Francesca, Bigoni, Stefania, Melchiorri, Loredana, Buldrini, Barbara, Balboni, Alessandra, Neri, Marcella, Armaroli, Annarita, Parmeggiani, Giulia, Italyankina, Eleonora, Mauro, Antonio, Ravani, Anna, Fini, Sergio, Caracciolo, Stefano, Ferlini, Alessandra
Published in Genetics in medicine (01.10.2014)
Published in Genetics in medicine (01.10.2014)
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Journal Article
A Family with γ-Thalassemia and High Hb A 2 Levels
Parmeggiani, Giulia, Gualandi, Francesca, Selvatici, Rita, Rimessi, Paola, Bigoni, Stefania, Taddei Masieri, Marina, Dolcini, Bernadetta, Venturoli, Anna, Cappabianca, Maria P., Ferlini, Alessandra, Ravani, Anna
Published in Hemoglobin (03.05.2016)
Published in Hemoglobin (03.05.2016)
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Journal Article
A Family with γ-Thalassemia and High Hb A2 Levels
Parmeggiani, Giulia, Gualandi, Francesca, Selvatici, Rita, Rimessi, Paola, Bigoni, Stefania, Taddei Masieri, Marina, Dolcini, Bernadetta, Venturoli, Anna, Cappabianca, Maria P., Ferlini, Alessandra, Ravani, Anna
Published in Hemoglobin (01.06.2016)
Published in Hemoglobin (01.06.2016)
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