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1 Ergebnisse
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Severe trichothiodystrophy and cardiac malformation in a ne..:
Sorrentino, Ugo
;
Agosto, Caterina
;
Benini, Franca
...
Clinical Genetics. 104 (2023) 5 - p. 604-606 , 2023
Link:
https://doi.org/10.1111/cge.14396
RT Journal T1
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14396&Exemplar=1&LAN=DE A1 Sorrentino, Ugo A1 Agosto, Caterina A1 Benini, Franca A1 Bertolin, Cinzia A1 Cassina, Matteo A1 Bonadies, Luca A1 Caroppo, Francesca A1 Fortina, Anna Belloni A1 Salviati, Leonardo PB Wiley YR 2023 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 104 IS 5 SP 604 OP 606 LK http://dx.doi.org/https://doi.org/10.1111/cge.14396 DO https://doi.org/10.1111/cge.14396 SF ELIB - SuUB Bremen
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