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GAPO syndrome associated with vestibular dysfunction and hearing loss.
Rapsomaniki M, Chiarella G, Mascaro I, Ceravolo F, Cassandro E, Strisciuglio P, Concolino D. Rapsomaniki M, et al. Among authors: strisciuglio p. Am J Med Genet A. 2013 Aug;161A(8):2102-4. doi: 10.1002/ajmg.a.35992. Epub 2013 Jun 21. Am J Med Genet A. 2013. PMID: 23794220 No abstract available.
Norrbottnian clinical variant of Gaucher disease in Southern Italy.
Sestito S, Filocamo M, Ceravolo F, Falvo F, Grisolia M, Moricca MT, Cantaffa R, Grossi S, Strisciuglio P, Concolino D. Sestito S, et al. Among authors: strisciuglio p. J Hum Genet. 2017 Apr;62(4):507-511. doi: 10.1038/jhg.2016.158. Epub 2016 Dec 22. J Hum Genet. 2017. PMID: 28003644
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Cappuccio G, et al. Among authors: strisciuglio p. Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1. Eur J Med Genet. 2017. PMID: 28867506
139 results