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1 Ergebnisse
1
A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weis..:
Da Silva, Jorge Diogo
;
Oliva-Teles, Natália
;
Tkachenko, Nataliya
...
info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F00215%2F2020/PT. , 2023
Link:
http://hdl.handle.net/10400.18/8588
RT Journal T1
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)
UL https://suche.suub.uni-bremen.de/peid=base-ftinssaudelisboa:oai:repositorio.insa.pt:10400.18_8588&Exemplar=1&LAN=DE A1 Da Silva, Jorge Diogo A1 Oliva-Teles, Natália A1 Tkachenko, Nataliya A1 Fino, Joana A1 Marques, Mariana A1 Fortuna, Ana Maria A1 David, Dezso PB MDPI YR 2023 K1 CHD4-associated ND Phenotype K1 GSG1L2 K1 Sifrim–Hitz–Weiss Syndrome K1 dup(2)(q14.3q21.1) K1 Familial Translocation K1 Frameshift CHD4 Variant K1 Doenças Genéticas JF info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F00215%2F2020/PT LK http://hdl.handle.net/10400.18/8588 DO http://hdl.handle.net/10400.18/8588 SF ELIB - SuUB Bremen
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