165 results on '"Jin, Jie-Yuan"'
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2. A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome
3. RTN3 deficiency exacerbates cisplatin-induced acute kidney injury through the disruption of mitochondrial stability
4. Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells
5. Case Report: Allelic and biallelic variants in coagulation factor XI cause factor XI deficiency.
6. Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly
7. Reticulon 3 regulates sphingosine‐1‐phosphate synthesis in endothelial cells to control blood pressure
8. Correction to: Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK‐IDH2 pathway
9. Familial congenital heart disease caused by a frameshift variant in glyoxylate reductase 1 homolog (GLYR1)
10. Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient
11. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope
12. Identification of A Novel Variant of Filamin A Destroying the Attraction Between Benzene Rings and Sulfhydryl in Developmental Dysplasia of the Hip
13. The genetic spectrum of familial hypercholesterolemia in the central south region of China
14. Late-onset hereditary spastic paraplegia associated with a genetic variant in interferon induced with helicase c domain 1 (IFIH1) gene
15. Increased RTN3 phenocopies nonalcoholic fatty liver disease by inhibiting the AMPK–IDH2 pathway
16. Case report: Identification of novel fibrillin-2 variants impacting disulfide bond and causing congenital contractural arachnodactyly
17. Increased Reticulon 3 (RTN3) Leads to Obesity and Hypertriglyceridemia by Interacting With Heat Shock Protein Family A (Hsp70) Member 5 (HSPA5)
18. Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death
19. Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3
20. ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics
21. Case Report: Identification of the First Synonymous Variant of Myosin Binding Protein C3 (c.24A>C, p.P8P) Altering RNA Splicing in a Cardiomyopathy and Sudden Cardiac Death Case
22. Genetic analysis combined with 3D‐printing assistant surgery in diagnosis and treatment for an X‐linked hypophosphatemia patient
23. GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis
24. Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese Family
25. A novel POF1B variant in a Chinese patient is associated with premature ovarian failure
26. Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing
27. Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome
28. Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block
29. Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease
30. A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia
31. Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas
32. Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension
33. Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate
34. A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels
35. Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
36. The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D
37. Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
38. Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families
39. Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus
40. Increased RTN3 leads to obesity and hypertriglyceridemia by interacting with HSPA5
41. A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split‐hand/foot malformation with hypodontia
42. Inhibitory Effect and Molecular Mechanism of the New Phorphyrin-Based HCE6 Photosensitizer on the Activity of MKN45 Human Gastric Cancer Cells
43. Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia
44. Exome sequencing identifies a novel nonsense mutation of Ring Finger Protein 207 in a Chinese family with Long QT syndrome and syncope
45. A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy
46. A de novo mutation of SMYD1 (p.F272L) is responsible for hypertrophic cardiomyopathy in a Chinese patient
47. Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy
48. Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease
49. Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia
50. A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity
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