122 results on '"Wang, Jian-She"'
Search Results
2. Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis
3. A new immune-related gene signature predicts the prognosis and immune escape of bladder cancer
4. Comprehensive analysis of integrin αvβ3/α6β1 in prognosis and immune escape of prostate cancer
5. Prevention of Portal-Tract Fibrosis in Zfyve19−/− Mouse Model with Adeno-Associated Virus Vector Delivering ZFYVE19
6. Non-invasive biomarkers for identification of vanishing bile duct syndrome among children with acute cholestatic hepatitis
7. Heat shock protein family A member 8 is a prognostic marker for bladder cancer: Evidences based on experiments and machine learning
8. Comprehensive Bile Acid Profiling of ABCB4-mutated Patients and the Prognostic Role of Taurine-conjugated 3α,6α,7α,12α-Tetrahydroxylated Bile Acid in Cholestasis
9. P1 Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
10. Analysis of long-term treatment effects of odevixibat on clinical outcomes in children with progressive familial intrahepatic cholestasis in odevixibat clinical studies vs external controls from the NAPPED database
11. Serum bile acids are associated with native liver survival in patients with Alagille syndrome: results from the GALA study group
12. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
13. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
14. Wilson Disease in China
15. List of Contributors
16. Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children
17. Recurrent AKR1D1 c.580-13T>A Variant
18. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
19. Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
20. Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
21. Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports
22. Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
23. Defining pathogenicity ofNOTCH2variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients
24. Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency
25. Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
26. TMEM199-Congenital Disorder of Glycosylation With Novel Phenotype and Genotype in a Chinese Boy
27. The Presence of Vacuolated Kupffer Cells Raises a Clinical Suspicion of Niemann-Pick Disease Type C in Neonatal Cholestasis
28. Neonatal Dubin-Johnson Syndrome and its Differentiation from Biliary Atresia
29. MYO5B ‐associated diseases: Novel liver‐related variants and genotype‐phenotype correlation
30. Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing
31. Genetic spectrum and clinical characteristics of 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency in China
32. Presence of Lipid Vacuoles in Kupffer Cells as a Marker for Early Detection of Niemann-Pick Disease Type C in Neonatal Cholestasis
33. Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
34. Genetic Spectrum and Clinical Characteristics of 3β-hydroxy-Δ5-C27-steroid Oxidoreductase (HSD3B7) Deficiency in China
35. Pediatric Wilson disease presenting as acute liver failure: Prognostic indices
36. Bleeding in patients and mice with Alagille syndrome: sex differences and risk factors
37. Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid
38. Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants
39. NTCP Deficiency Causes Gallbladder Abnormalities in Mice and Human Beings
40. ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression
41. Unequal Effects of Myosin 5B Mutations in Liver and Intestine Determine the Clinical Presentation of Low‐Gamma‐Glutamyltransferase Cholestasis
42. NBAS disease: 14 new patients, a recurrent mutation, and genotype–phenotype correlation among 24 Chinese patients
43. Abnormal Bilirubin Metabolism in Patients With Sodium Taurocholate Cotransporting Polypeptide Deficiency
44. Clinical features and natural history of 1154 Alagille syndrome patients: results from the international multicenter GALA study group
45. The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
46. Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis
47. A Molecular Mechanism Underlying Genotype‐Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations
48. Low‐GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization
49. Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients
50. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty
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