16 results on '"Xu, Wanfang"'
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2. A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
3. Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China
4. Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review
5. Two large novel alpha-globin gene cluster deletions causing alpha(0)-thalassemia in two Chinese families
6. Additional file 1 of Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
7. Serine protease HtrA1 as an inhibitor on proliferation invasion and migration of gastric cancer
8. Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8
9. A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
10. Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
11. A new partial trisomy 12p with artery catheter vagus, congenital cataract, no turbinate and external auditory canal
12. Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis
13. Rapid detection of α-thalassaemia alleles of -- SEA /, -α 3.7 / and -α 4.2 / using a dual labelling, self-quenching hybridization probe/melting curve analysis
14. Distributed power quality monitoring system based on EtherCAT
15. Rapid detection of α-thalassaemia alleles of --SEA/, -α3.7/ and -α4.2/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.
16. [Application of noninvasive fetal trisomy testing based on massively parallel sequencing for the detection of chromosomal deletions and duplications].
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