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Kovács, Gábor, Kalmár, Tibor, Endreffy, Emőke, Ondrik, Zoltán, Iványi, Béla, Rikker, Csaba, Haszon, Ibolya, Túri, Sándor, Sinkó, Mária, Bereczki, Csaba, Maróti, Zoltán:
Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.
PLOS ONE, 11 (3).
Terjedelem: 14 p.-Azonosító: e0149241.
ISSN 1932-6203
(2016)
Ferdinandyné Horváth, Emese, Horváth, Zsuzsanna, Isaszegi, Dóra, Gergev, Gyurgyinka, Nagy, Nikoletta, Szabó, János, Sztriha, László, Széll, Márta, Endreffy, Emőke:
Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.
Molecular Cytogenetics, 6 (1).
Azonosító: 35-Terjedelem: 5 p..
ISSN 1755-8166
(2013)
Iványi, Béla, Haszon, Ibolya, Endreffy, Emőke, Szenohradszky, Pál, Petri, Ildikó B., Kalmár, Tibor, Butkowski, Ralph J., Charonis, Aristidis S., Túri, Sándor:
Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: An 11-year follow-up.
American Journal of Kidney Diseases, 32 (6).
pp. 1068-1074.
ISSN 0272-6386
(1998)