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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)
