Výsledky vyhledávání - Fabio Sirchia

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature Autor Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia

Connect to this object online.

Definition and prevalence of familial short stature Autor Veronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, Fabio Sirchia, Egidio Barbi, Gianluca Tornese

Connect to this object online.

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype Autor Andrea Querzani, Fabio Sirchia, Gianluca Rustioni, Alessandra Rossi, Alessandro Orsini, Gian Luigi Marseglia, Salvatore Savasta, Luisa Chiapparini, Thomas Foiadelli

Connect to this object online.

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient Autor Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello

Connect to this object online.

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis Autor Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca, Tamara Stampalija

Connect to this object online.