Mazza', Daniela
Mazza', Daniela
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
2019 Zollino, Marcella; Ranieri, C.; Grossi, V.; Leoni, Chiara; Lattante, Serena; Mazza', Daniela; Simone, C.; Resta, N.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
2016 Olsen, Rikke K. J; Koňaříková, Eliška; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza', Daniela; Zollino, Marcella; Ghezzi, Daniele Maria; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 1-gen-2019 | Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay | Zollino, Marcella; Ranieri, C.; Grossi, V.; Leoni, Chiara; Lattante, Serena; Mazza', Daniela; Simone, C.; Resta, N. | |
| 1-gen-2016 | Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency | Olsen, Rikke K. J; Koňaříková, Eliška; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza', Daniela; Zollino, Marcella; Ghezzi, Daniele Maria; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger |