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A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1) by Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, Dezso David
Published 2022-12-01
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Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases by Zirui Dong, Zirui Dong, Zirui Dong, Zirui Dong, Dezso David, Claudia Gonzaga-Jauregui, Cynthia C. Morton, Cynthia C. Morton, Cynthia C. Morton, Cynthia C. Morton, Cynthia C. Morton, Cinthya J. Zepeda-Mendoza
Published 2022-09-01
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