| Title : MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy - Morsy_2026_Am.J.Hum.Genet__ |
| Author(s) : Morsy H , Kim H , Jang G , Zaki MS , Severino M , Abdelrazek IM , Hussien H , Self E , Albaradie RS , Bakur K , Firoozfar Z , Efthymiou S , Noureldeen MM , Nabil A , Alvi JR , Molavi F , Alavi S , Alibakhshi R , Topcu V , Mancilar H , Uctepe E , Yesilyurt A , Aldhalaan H , Showki Tous ES , Alhaddad B , Elbendary HM , Scardamaglia A , Murphy D , Yepez VA , Gagneur J , Omar TI , Abd Elmaksoud M , Vandrovocova J , Abdalla E , Reilly MM , Sultan T , Alkuraya FS , Gleeson JG , Um JW , Houlden H , Ko J , Maroofian R |
| Ref : American Journal of Human Genetics , : , 2026 |
| Abstract : |
| PubMedSearch : Morsy_2026_Am.J.Hum.Genet__ |
| PubMedID: 41570816 |
| Title : Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects - Nosrati_2024_Clin.Genet__ |
| Author(s) : Nosrati MSS , Doustmohammadi A , Severino M , Romano F , Zafari M , Nemati AH , Velmans C , Netzer C , Breuer J , Broekaert IJ , Joachim A , Almasri N , Kruer MC , Skidmore P , Bisarad P , Hoque J , Bakhtiari S , Torella A , Nigro V , Buffelli F , Fulcheri E , Muller A , Zara F , Capra V , Scala M |
| Ref : Clin Genet , : , 2024 |
| Abstract : |
| PubMedSearch : Nosrati_2024_Clin.Genet__ |
| PubMedID: 39305096 |
| Title : Characterization of the major allergens purified from the venom of the paper wasp Polistes gallicus - Pantera_2003_Biochim.Biophys.Acta_1623_72 |
| Author(s) : Pantera B , Hoffman DR , Carresi L , Cappugi G , Turillazzi S , Manao G , Severino M , Spadolini I , Orsomando G , Moneti G , Pazzagli L |
| Ref : Biochimica & Biophysica Acta , 1623 :72 , 2003 |
| Abstract : |
| PubMedSearch : Pantera_2003_Biochim.Biophys.Acta_1623_72 |
| PubMedID: 14572904 |