Search Results - "Song, Jiedong"
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Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities
Published in Frontiers in genetics (18-06-2024)“…To analyze the prenatal diagnosis, parental verification, and pregnancy outcomes of three fetuses with 17ql2 microdeletion syndrome. We retrospectively…”
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Journal Article -
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Disparate phenotypes in two unfavorable pregnancies due to maternal mosaicism of a novel RET gene mutation
Published in Clinica chimica acta (01-06-2022)“…Mutations in RET have been found in multiple diseases including isolated and associated congenital anomalies. Here, we report a case presented with disparate…”
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Journal Article -
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Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing
Published in Journal of assisted reproduction and genetics (01-09-2023)“…Purpose To report a rare type of Pallister-Killian syndrome (PKS) diagnosed prenatally by the utility of non-invasive prenatal testing (NIPT). Methods NIPT was…”
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Journal Article