BALDASSARI, SARA
BALDASSARI, SARA
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations
2018 Di Vito, Lidia; Licchetta, Laura; Pippucci, Tommaso; Baldassari, Sara; Stipa, Carlotta; Mostacci, Barbara; Alvisi, Lara; Tinuper, Paolo; Bisulli, Francesca
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
2016 Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F.; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; Leguern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature
2016 Neri, Iria; Virdi, Annalucia; Tortora, Giada; Baldassari, Sara; Seri, Marco; Patrizi, Annalisa
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations | Di Vito, Lidia; Licchetta, Laura; Pippucci, Tommaso; Baldassari, Sara; Stipa, Carlotta; Mostacci,... Barbara; Alvisi, Lara; Tinuper, Paolo; Bisulli, Francesca | 2018-01-01 | EPILEPSY & BEHAVIOR | - | 1.01 Articolo in rivista | - |
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 | Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F.; Bisulli, Fra...ncesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; Leguern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie | 2016-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature | Neri, Iria; Virdi, Annalucia; Tortora, Giada; Baldassari, Sara; Seri, Marco; Patrizi, Annalisa | 2016-01-01 | JOURNAL OF DERMATOLOGICAL SCIENCE | - | 1.04 Replica / breve intervento (e simili) | - |