19 results on '"Jing, Xiang‐Yi"'
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2. Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation
3. Sotos syndrome: A study of antenatal presentation
4. Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease
5. Invasive genetic testing for isolated increased nuchal translucency of 3.0–3.4 mm: Results from cohort analysis with 604 fetuses.
6. Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes
7. First‐trimester prenatal diagnosis of Coffin‐Siris syndrome‐related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology.
8. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
9. Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing.
10. The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study.
11. Prenatal diagnosis of Coffin‐Siris syndrome: What are the fetal features?
12. Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre.
13. Prenatal diagnosis of Miller-Dieker syndrome/PAFAH1B1-related lissencephaly: Ultrasonography and genetically investigative results.
14. Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing.
15. Improved outcomes in patients with prenatally detected 22q11.2 deletion syndrome.
16. Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
17. Unmasking a recessive allele by a deletion: Early prenatal diagnosis of Bardet‐Biedl syndrome in a Chinese family.
18. A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.
19. Prenatal diagnosis of trisomy 18 rescue resulting in mosaic of two different diploid cell lines in a hydropic fetus.
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