19 results on '"Jin, Pengzhen"'
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2. Identification of four TTN variants in three families with fetal akinesia deformation sequence
3. Noninvasive Prenatal Screening for Common Fetal Aneuploidies Using Single-Molecule Sequencing
4. Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case report
5. Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
6. Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.
7. CGG repeats of FMR1 negatively affect ovarian reserve and response in Chinese women
8. Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis
9. Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene
10. Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
11. Detectionof Fetal Trisomy 8 Mosaicism with Cell-free Fetal DNA in Maternal Plasma
12. Prenatal Diagnosis of Walker–Warburg Syndrome due to Compound Mutations in the B3GALNT2 Gene
13. Pro-Inflammatory Signature in Decidua of Recurrent Pregnancy Loss Regardless of Embryonic Chromosomal Abnormalities
14. Case Report: A Synonymous Mutation in NF1 Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping
15. Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction
16. Clinical Efficiency of Non-invasive Prenatal Screening for Common Trisomies in Low-Risk and Twin Pregnancies
17. Galectin-14 Promotes Trophoblast Migration and Invasion by Upregulating the Expression of MMP-9 and N-Cadherin
18. SLC10A5 deficiency causes hypercholanemia.
19. [Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].
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