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Da Silva JD, Oliva-Teles N, Tkachenko N, Fino J, Marques M, Fortuna AM, David D. A Novel Frameshift CHD4 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). Biomedicines. 2023; 11(1):12. https://doi.org/10.3390/biomedicines11010012

Da Silva, Jorge Diogo, Natália Oliva-Teles, Nataliya Tkachenko, Joana Fino, Mariana Marques, Ana Maria Fortuna, and Dezso David. 2023. "A Novel Frameshift CHD4 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)" Biomedicines 11, no. 1: 12. https://doi.org/10.3390/biomedicines11010012

Da Silva, J. D., Oliva-Teles, N., Tkachenko, N., Fino, J., Marques, M., Fortuna, A. M., & David, D. (2023). A Novel Frameshift CHD4 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). Biomedicines, 11(1), 12. https://doi.org/10.3390/biomedicines11010012