PAOLACCI, STEFANO
PAOLACCI, STEFANO
Molecular bases of Zimmermann-Laband syndrome
2017 Paolacci, Stefano
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
2015 Kortüm, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, MARIA LISA; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, THI THU VAN; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano
Novel POLR3A mutations causing hypomyelinating leukodystrophy
2015 Paolacci, Stefano; Caputo, Viviana; V, .; Bruselles, ; A, .; Ciolfi, Andrea; A, .; Giovannetti, Agnese; A, .; Bertini, ; E, .; Pizzuti, Antonio; A, .; Leuzzi, Vincenzo; V, .; Tartaglia,
Recessive inactivating mutations in TBCK, a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy
2016 Caputo, Viviana; Chong, Jx; Phelps, Ig; Stella, L; Worgan, L; Dempsey, Jc; Nguyen, A; Paolacci, Stefano; Leuzzi, V; Webster, R; Pizzuti, Antonio; Marvin, Ct; Ishak, Ge; Ardern Holmes, S; Richmond, Z; University of Washington Center for Mendelian, Genomics; Bamshad, Mj; Ortiz Gonzalez, Xr; Tartaglia, M; Chopra, M; Doherty, D.
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies
2018 Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Molecular bases of Zimmermann-Laband syndrome | 2017 | Paolacci, Stefano | |
| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome | 2015 | Kortüm, F; Caputo, Viviana; Bauer, Ck; Stella, L; Ciolfi, Andrea; Alawi, M; Bocchinfuso, G; Flex, Elisabetta; Dentici, MARIA LISA; Grammatico, Paola; Korenke, Gc; Leuzzi, Vincenzo; Mowat, D; Nair, Ld; Nguyen, THI THU VAN; Thierry, P; White, Sm; Dallapiccola, B; Pizzuti, Antonio; Campeau, Pm; Tartaglia, M; Kutsche, K.; Paolacci, Stefano | |
| Novel POLR3A mutations causing hypomyelinating leukodystrophy | 2015 | Paolacci, Stefano; Caputo, Viviana; V, .; Bruselles, ; A, .; Ciolfi, Andrea; A, .; Giovannetti, Agnese; A, .; Bertini, ; E, .; Pizzuti, Antonio; A, .; Leuzzi, Vincenzo; V, .; Tartaglia, | |
| Recessive inactivating mutations in TBCK, a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy | 2016 | Caputo, Viviana; Chong, Jx; Phelps, Ig; Stella, L; Worgan, L; Dempsey, Jc; Nguyen, A; Paolacci, Stefano; Leuzzi, V; Webster, R; Pizzuti, Antonio; Marvin, Ct; Ishak, Ge; Ardern Holmes, S; Richmond, Z; University of Washington Center for Mendelian, Genomics; Bamshad, Mj; Ortiz Gonzalez, Xr; Tartaglia, M; Chopra, M; Doherty, D. | |
| Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies | 2018 | Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana |