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Determination of furanic compounds in insulating oil by high performance liquid chromatography/mass spectrometry using atmospheric pressure chemical ionization.
Published in:
Rapid Communications in Mass Spectrometry: RCM, 1998, v. 12, n. 20, p. 1515, doi. 10.1002/(SICI)1097-0231(19981030)12:20<1515::AID-RCM335>3.0.CO;2-L
By:
- Kóréh, Orsolya;
- Ludányi, Krisztina;
- Vékey, Károly;
- Jávorszky, Eszter;
- Molnár, Eszter;
- Torkos, Kornél;
- Borossay, József
Publication type:
Article
Arthrogryposis–renalis diszfunkció–cholestasis szindróma.
Published in:
Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 2, p. 74, doi. 10.1556/650.2022.32312
By:
- Mikó, Ágnes;
- Lóth, Szendile;
- Müller, Judit;
- Lotz, Bence;
- Rossitto, Patrizio;
- Szabolcs, Andrea;
- Benyó, Gábor;
- Jávorszky, Eszter;
- Tory, Kálmán;
- Dezsőfi, Antal
Publication type:
Article
The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Published in:
Molecular Biology Reports, 2019, v. 46, n. 5, p. 5595, doi. 10.1007/s11033-019-04980-8
By:
- Nagy, Orsolya;
- Kárteszi, Judit;
- Hartwig, Marianna;
- Bertalan, Rita;
- Jávorszky, Eszter;
- Erhardt, Éva;
- Patócs, Attila;
- Tornóczky, Tamás;
- Balogh, István;
- Ujfalusi, Anikó
Publication type:
Article
Primer hyperoxaluria. Tények és perspektívák.
Published in:
Hypertonia és Nephrologia, 2022, v. 26, n. 6, p. 276, doi. 10.33668/hn.26.030
By:
- Tamás, KAUCSÁR;
- Bálint, MIKES;
- Kata, KELEN;
- Eszter, JÁVORSZKY;
- Ildikó, SZATMÁRI;
- Deján, DOBI;
- Kinga, NYIKULY;
- Ildikó, VÁRKONYI;
- Erika, MAKA;
- Antal, DEZSŐFI-GOTTL;
- István, MÁTTYUS;
- Csaba, LÓDI;
- Kálmán, TORY;
- Péter, SALLAY;
- Attila, SZABÓ J.;
- György, REUSZ
Publication type:
Article
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.
Published in:
Annals of Human Genetics, 2020, v. 84, n. 1, p. 80, doi. 10.1111/ahg.12337
By:
- Vojcek, Eszter;
- Keszthelyi, Tália Magdolna;
- Jávorszky, Eszter;
- Balogh, Lídia;
- Tory, Kálmán
Publication type:
Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 10, p. 1713, doi. 10.1007/s00467-018-3992-5
By:
- Szabó, Tamás;
- Orosz, Petronella;
- Balogh, Eszter;
- Jávorszky, Eszter;
- Máttyus, István;
- Bereczki, Csaba;
- Maróti, Zoltán;
- Kalmár, Tibor;
- Szabó, Attila J;
- Reusz, George;
- Várkonyi, Ildikó;
- Marián, Erzsébet;
- Gombos, Éva;
- Orosz, Orsolya;
- Madar, László;
- Balla, György;
- Kappelmayer, János;
- Tory, Kálmán;
- Balogh, István
Publication type:
Article
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
Published in:
2013
By:
- Kerti, Andrea;
- Csohány, Rózsa;
- Wagner, László;
- Jávorszky, Eszter;
- Maka, Erika;
- Tory, Kálmán
Publication type:
Report
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs.
Published in:
BMC Molecular Biology, 2017, v. 18, p. 1, doi. 10.1186/s12867-017-0089-9
By:
- Veres‑Székely, Apor;
- Pap, Domonkos;
- Sziksz, Erna;
- Jávorszky, Eszter;
- Rokonay, Réka;
- Lippai, Rita;
- Tory, Kálmán;
- Fekete, Andrea;
- Tulassay, Tivadar;
- Szabó, Attila J.;
- Vannay, Ádám
Publication type:
Article
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.
Published in:
Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 6, p. 809, doi. 10.1515/cclm-2016-0819
By:
- Jávorszky, Eszter;
- Morinière, Vincent;
- Kerti, Andrea;
- Balogh, Eszter;
- Pikó, Henriett;
- Saunier, Sophie;
- Karcagi, Veronika;
- Antignac, Corinne;
- Tory, Kálmán
Publication type:
Article

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