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Kalmár Tibor; Szakszon Katalin; Maróti Zoltán; Zimmermann Aliz; Máté Adrienn; Zombor Melinda; Bereczki Csaba; Sztriha László:
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
JOURNAL OF PEDIATRIC GENETICS, 10 (2).
pp. 159-163.
ISSN 2146-4596
(2021)
Nagy Orsolya; Szakszon Katalin; Biró Brigitta Orsolya; Mogyorósy Gábor; Nagy Dóra; Nagy Bálint; Balogh István; Ujfalusi Anikó:
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
JOURNAL OF BIOTECHNOLOGY, 299.
pp. 86-95.
ISSN 0168-1656
(2019)