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Your search keyword '"Yu, Yongguo"' showing total 16 results

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16 results on '"Yu, Yongguo"'

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1. Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.

2. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.

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3. Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).

4. De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling.

5. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

6. Next-generation sequencing as a second-tier diagnostic test for newborn screening.

7. Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

8. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

9. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

10. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

11. Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

12. Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.

13. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

14. Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.

15. Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency.

16. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients