Ngā hua rapu - Valentina Imperatore
- E whakaatu ana i te 1 - 3 hua o te 3
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1
Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene mā Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti‐Ferreira, Susanna Esposito, Gabriela Stangoni
I whakaputaina 2019Artigo -
2
Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism mā Sara Amitrano, Annabella Marozza, Serena Somma, Valentina Imperatore, Theodora Hadjistilianou, Sonia De Francesco, Paolo Toti, Daniela Galimberti, Ilaria Meloni, Francesco Cetta, Pietro Piu, Chiara Di Marco, Laura Dosa, Caterina Lo Rizzo, Giulia Carignani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani
I whakaputaina 2015Artigo -
3
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome mā Elisa Landucci, Margherita Brindisi, Laura Bianciardi, Lorenza M. Catania, Sergio Daga, Susanna Croci, Elisa Frullanti, Chiara Fallerini, Stefania Butini, Simone Brogi, Simone Furini, Riccardo Melani, Angelo Molinaro, Flaminia Clelia Lorenzetti, Valentina Imperatore, Sonia Amabile, Jessica Mariani, Francesca Mari, Francesca Ariani, Tommaso Pizzorusso, Anna Maria Pinto, Flora M. Vaccarino, Alessandra Renieri, Giuseppe Campiani, Ilaria Meloni
I whakaputaina 2018Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Gene
Genetics
Mutation
Phenotype
Allele
Candidate gene
Cell biology
Chromosome
Comparative genomic hybridization
Copy-number variation
DNA sequencing
Embryonic stem cell
Exome sequencing
Fetus
GABAergic
Gene duplication
Genetic counseling
Genetic testing
Genome
Germline mutation
Holoprosencephaly
Induced pluripotent stem cell
Inhibitory postsynaptic potential
MECP2
Neuroscience
PTCH1
Pregnancy
Proband
Reprogramming