Resultados da busca - Ferlini, Alessandra
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Research and applied medical genetics: filling the gap por Ferlini, Alessandra
Publicado em 2010Texto -
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DNA and ability to reproduce: the ‘Secret' of evolution por Ferlini, Alessandra
Publicado em 2012Texto -
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ADHD and Its Many Associated Problems por Ferlini, Alessandra, Neri, Marcella
Publicado em 2016Texto -
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A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature por Parmeggiani, Giulia, Buldrini, Barbara, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania
Publicado em 2018Texto -
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Novel Approach to Meta-Analysis of Microarray Datasets Reveals Muscle Remodeling-related Drug Targets and Biomarkers in Duchenne Muscular Dystrophy por Kotelnikova, Ekaterina, Shkrob, Maria A., Pyatnitskiy, Mikhail A., Ferlini, Alessandra, Daraselia, Nikolai
Publicado em 2012Texto -
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226(th) ENMC International Workshop: Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlan... por Aartsma-Rus, Annemieke, Ferlini, Alessandra, McNally, Elizabeth M., Spitali, Pietro, Sweeney, H. Lee
Publicado em 2017Texto -
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204th ENMC international workshop on biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands por Ferlini, Alessandra, Flanigan, Kevin M., Lochmuller, Hanns, Muntoni, Francesco, ‘t Hoen, Peter AC, McNally, Elizabeth
Publicado em 2014Texto -
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Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay por Parmeggiani, Giulia, Bigoni, Stefania, Buldrini, Barbara, Garani, Giampaolo, Clauser, Luigi, Galiè, Manilo, Ferlini, Alessandra, Fini, Sergio
Publicado em 2017Texto -
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EMQN best practice guidelines for genetic testing in dystrophinopathies por Fratter, Carl, Dalgleish, Raymond, Allen, Stephanie K., Santos, Rosário, Abbs, Stephen, Tuffery-Giraud, Sylvie, Ferlini, Alessandra
Publicado em 2020Texto -
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Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy por Rossi, Rachele, Fang, Mingyan, Zhu, Lin, Jiang, Chongyi, Yu, Cong, Flesia, Cristina, Nie, Chao, Li, Wenyan, Ferlini, Alessandra
Publicado em 2022Texto -
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Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype por Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania
Publicado em 2021Texto -
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Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis por Ferlini, Alessandra, Bovolenta, Matteo, Neri, Marcella, Gualandi, Francesca, Balboni, Alessandra, Yuryev, Anton, Salvi, Fabrizio, Gemmati, Donato, Liboni, Alberto, Zamboni, Paolo
Publicado em 2010Texto