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Author/Creator Castorina, Pierangela

1. Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots. Issue 10 (15th July 2014)

Authors:
Baux, David; Blanchet, Catherine; Hamel, Christian; Meunier, Isabelle; Larrieu, Lise; Faugère, Valérie; Vaché, Christel; Castorina, Pierangela; Puech, Bernard; Bonneau, Dominique; Malcolm, Sue; Claustres, Mireille; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 35:Issue 10(2014:Oct.)
Page Start:
1179
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss. (January 2019)

Authors:
Morgan, Anna; Vuckovic, Dragana; Krishnamoorthy, Navaneethakrishnan; Rubinato, Elisa; Ambrosetti, Umberto; Castorina, Pierangela; Franzè, Annamaria; Vozzi, Diego; La Bianca, Martina; Cappellani, Stefania; Di Stazio, Mariateresa; Gasparini, Paolo; Girotto, Giorgia
Journal:
European journal of human genetics
Issue:
Volume 27:Number 1(2019)
Page Start:
70
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗