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Filters: Author is Parrini, Elena [Clear All Filters]

2015

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects., Parrini, Elena, Mei Davide, Pisanti Maria Antonietta, Catarzi Serena, Pucatti Daniela, Bianchini Claudia, Mascalchi Mario, Bertini Enrico, Morrone Amelia, Cavaliere Maria Luigia, et al. , Journal of medical genetics, 2015 Jun, Volume 52, Issue 6, p.405-12, (2015) Abstract

http://www.ncbi.nlm.nih.gov/pubmed/25755106?dopt=Abstract

2014

Periventricular nodular heterotopia in Smith-Magenis syndrome., Capra, Valeria, Biancheri Roberta, Morana Giovanni, Striano Pasquale, Novara Francesca, Ferrero Giovanni Battista, Boeri Luca, Celle Maria Elena, Mancardi Maria Margherita, Zuffardi Orsetta, et al. , American journal of medical genetics. Part A, 2014 Dec, Volume 164A, Issue 12, p.3142-7, (2014) Abstract

http://www.ncbi.nlm.nih.gov/pubmed/25257626?dopt=Abstract