28 results on '"Zhi, Xiufang"'
Search Results
2. The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III
3. What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report
4. A cohort of five cases with asymmetric conjoined twining and literature review
5. A functional study for verifying the pathogenicity of a TRPM6 variant of uncertain significance: A novel non-canonical splicing-site variant in primary hypomagnesemia with secondary hypocalcemia
6. Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature review
7. A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report
8. Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China
9. Identification of a splicing variant c.3813-3A>G in NPHP3 by reanalysis of whole exome sequencing in a Chinese boy with nephronophthisis
10. Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect
11. Vitamin D levels and Vitamin D-related gene polymorphisms in Chinese children with type 1 diabetes
12. Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene
13. Identification of a Splicing Variant c.3813-3A>G in NPHP3by Reanalysis of Whole Exome Sequencing in a Chinese Boy with Nephronophthisis
14. Identification of two aberrant transcripts by RNA sequencing for a novel variant c.3354 + 5 G > A of MED12 in a Chinese girl with non-syndromic intellectual disability
15. Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein
16. Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease
17. Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant
18. Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family
19. Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria
20. Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.
21. Association of Triglyceride-Glucose index with risk of microalbuminuria in Chinese children with type 1 diabetes
22. A cohort of five cases with asymmetric conjoined twining and literature review
23. Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China
24. Vitamin D levels are associated with low-density lipoprotein cholesterol in Chinese children with type 1 diabetes
25. Association of Triglyceride-Glucose Index with the Incidence of Ketoacidosis in Chinese Children with Type 1 Diabetes
26. Correlation of serum vitamin D level with ketoacidosis in Chinese children with type 1 diabetes mellitus
27. Clinical study of autoantibodies in type 1 diabetes mellitus children with ketoacidosis or microalbuminuria.
28. [Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].
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