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1 Ergebnisse
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Compound heterozygosity of a de novo submicroscopic deletio..:
Sakyu, Takuya
;
Stover, Samantha R.
;
Wang, Yue
...
Clinical Case Reports. 11 (2023) 2 - p. , 2023
Link:
https://doi.org/10.1002/ccr3.6692
RT Journal T1
Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ccr3.6692&Exemplar=1&LAN=DE A1 Sakyu, Takuya A1 Stover, Samantha R. A1 Wang, Yue A1 Ward, Patricia A1 Gandhi, Manisha A1 Braun, Michael C. A1 Van den Veyver, Ignatia B. A1 Bi, Weimin PB Wiley YR 2023 SN 2050-0904 SN 2050-0904 JF Clinical Case Reports VO 11 IS 2 LK http://dx.doi.org/https://doi.org/10.1002/ccr3.6692 DO https://doi.org/10.1002/ccr3.6692 SF ELIB - SuUB Bremen
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