Résultats de la recherche - Sabrina Buoni
- Résultat(s) 1 - 3 résultats de 3
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1
Epilepsy in Rett syndrome: Clinical and genetic features par Maria Pintaudi, Maria Grazia Calevo, Aglaia Vignoli, Elena Biggi Parodi, Francesca Aiello, M. G. Baglietto, Joussef Hayek, Sabrina Buoni, Alessandra Renieri, Silvia Russo, Francesca Cogliati, Lucio Giordano, Maria Paola Canevini, Edvige Veneselli
Publié 2010Artigo -
2
FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome par Francesca Ariani, Joussef Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto, Marzia Pollazzon, Sabrina Buoni, Ottavia Spiga, Sara Ricciardi, Ilaria Meloni, Ilaria Longo, Francesca Mari, Vania Broccoli, Michele Zappella, Alessandra Renieri
Publié 2008Artigo -
3
Widening the mutation spectrum of<i>EVC</i>and<i>EVC2</i>: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling par Eulalia Valencia, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni, Suhair S Eid, Helen Cox, Sabrina Buoni, Joussef Hayek, María Luisa Martínez‐Frías, Antonio Pérez Aytés, Samia A. Temtamy, Mona Aglan, Judith A. Goodship, Víctor L. Ruiz‐Pérez
Publié 2009Artigo
Outils de recherche:
Sujets similaires
Biology
Gene
Genetics
MECP2
Mutation
Phenotype
Rett syndrome
Allele
Alternative splicing
Ectopic expression
Environmental health
Epilepsy
Epilepsy syndromes
Exon
Gene expression
Hedgehog
Intron
Medicine
Molecular biology
Neurodevelopmental disorder
Neuroscience
Pediatrics
Population
Psychiatry
Psychology
RNA
RNA splicing
Repressor
Splice site mutation
splice