Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

by Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke
Published 2013

Paraoxonase 1 activities and polymorphisms in autism spectrum disorders

by Paşca, Sergiu P, Dronca, Eleonora, Nemeş, Bogdan, Kaucsár, Tamás, Endreffy, Emõke, Iftene, Felicia, Benga, Ileana, Cornean, Rodica, Dronca, Maria
Published 2010

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

by Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán
Published 2016

One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders

by Paşca, Sergiu P, Dronca, Eleonora, Kaucsár, Tamás, Crǎciun, Elena C, Endreffy, Emõke, Ferencz, Beatrix K, Iftene, Felicia, Benga, Ileana, Cornean, Rodica, Banerjee, Ruma, Dronca, Maria
Published 2009

Further Evidence of Subphenotype Association with Systemic Lupus Erythematosus Susceptibility Loci: A European Cases Only Study

by Alonso-Perez, Elisa, Suarez-Gestal, Marian, Calaza, Manuel, Ordi-Ros, Josep, Balada, Eva, Bijl, Marc, Papasteriades, Chryssa, Carreira, Patricia, Skopouli, Fotini N., Witte, Torsten, Endreffy, Emöke, Marchini, Maurizio, Migliaresi, Sergio, Sebastiani, Gian Domenico, Santos, Maria Jose, Suarez, Ana, Blanco, Francisco J., Barizzone, Nadia, Pullmann, Rudolf, Ruzickova, Sarka, Lauwerys, Bernard R., Gomez-Reino, Juan J., Gonzalez, Antonio
Published 2012

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

by Delgado-Vega, Angélica M, Dozmorov, Mikhail G, Quirós, Manuel Bernal, Wu, Ying-Yu, Martínez-García, Belén, Kozyrev, Sergey V, Frostegård, Johan, Truedsson, Lennart, de Ramón, Enrique, González-Escribano, María F, Ortego-Centeno, Norberto, Pons-Estel, Bernardo A, D'Alfonso, Sandra, Sebastiani, Gian Domenico, Witte, Torsten, Lauwerys, Bernard R, Endreffy, Emoke, Kovács, László, Vasconcelos, Carlos, da Silva, Berta Martins, Wren, Jonathan D, Martin, Javier, Castillejo-López, Casimiro, Alarcón-Riquelme, Marta E
Published 2012