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Pediatric Emergency Care|September 17, 2009
Early introduction of peritoneal dialysis may improve survival in severe sepsisKatalin Szakszon, István Csízy, Tamás SzabóAmerican Journal of Medical Genetics. Part A|September 25, 2014
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutationBeáta Bessenyei, Mariann Tihanyi, Marianna Hartwig, et al.Cold Spring Harbor Molecular Case Studies|October 16, 2021
<i>MED13L</i>-related intellectual disability due to paternal germinal mosaicismBeáta Bessenyei, István Balogh, Attila Mokánszki, et al.Orvosi Hetilap|June 19, 2010
[Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation]Gabriella P Szabó, Beáta Bessenyei, Erzsébet Balogh, et al.Molecular Syndromology|September 9, 2020
22q13 Microduplication Syndrome in Siblings with Mild Clinical Phenotype: Broadening the Clinical and Behavioral SpectrumAnikó Ujfalusi, Orsolya Nagy, Beáta Bessenyei, et al.Orvosi Hetilap|February 26, 2014
[Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)]Katalin Szakszon, Erzsébet Balogh, Anikó Ujfalusi, et al.American Journal of Medical Genetics. Part A|February 26, 2013
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndromeKatalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, et al.Journal of Pediatric Genetics|May 17, 2021
A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar HypoplasiaTibor Kalmár, Katalin Szakszon, Zoltán Maróti, et al.Journal of Biotechnology|May 5, 2019
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseasesOrsolya Nagy, Katalin Szakszon, Brigitta Orsolya Biró, et al.American Journal of Medical Genetics. Part A|September 4, 2015
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicingRüstem Yilmaz, Ana Beleza-Meireles, Susan Price, et al.Pageof 5