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1 Ergebnisse
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Novel prenatally diagnosed compound heterozygous POMT2 vari..:
Ju Chin Tsauer
;
Jia Shing Chen
;
Yu Ming Shiao
...
http://www.sciencedirect.com/science/article/pii/S1028455922000894. , 2022
Link:
https://doi.org/10.1016/j.tjog.2022.03.021
RT Journal T1
Novel prenatally diagnosed compound heterozygous POMT2 variants in fetal congenital primary aqueduct stenosis
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:7551499f9bf744839c2ea64a59545446&Exemplar=1&LAN=DE A1 Ju Chin Tsauer A1 Jia Shing Chen A1 Yu Ming Shiao A1 Wei Shin Chou A1 Yi Fen Chang A1 Ching Hua Hsiao PB Elsevier YR 2022 K1 Hydrocephalus K1 Fetal aqueduct stenosis K1 Chromosomal microarray analysis (CMA) K1 Compound heterozygous K1 Whole-exome sequencing (WES) K1 Gynecology and obstetrics K1 RG1-991 JF http://www.sciencedirect.com/science/article/pii/S1028455922000894 LK http://dx.doi.org/https://doi.org/10.1016/j.tjog.2022.03.021 DO https://doi.org/10.1016/j.tjog.2022.03.021 SF ELIB - SuUB Bremen
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