Found: 18
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Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1451, doi. 10.1002/ajmg.a.61254
- By:
- Publication type:
- Article
Clinical features, <italic>BTD</italic> gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 589, doi. 10.1002/ajmg.a.38601
- By:
- Publication type:
- Article
Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2020, v. 23, n. 6, p. 558, doi. 10.5223/pghn.2020.23.6.558
- By:
- Publication type:
- Article
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 3, p. 765, doi. 10.1007/s11011-017-9959-6
- By:
- Publication type:
- Article
Features of liver injury in 138 Chinese patients with NICCD.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2023, v. 36, n. 12, p. 1154, doi. 10.1515/jpem-2023-0026
- By:
- Publication type:
- Article
Sooner or Later? Promising Delivery Speed in Online Retail.
- Published in:
- M&SOM: Manufacturing & Service Operations Management, 2024, v. 26, n. 1, p. 233, doi. 10.1287/msom.2021.0174
- By:
- Publication type:
- Article
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03210-0
- By:
- Publication type:
- Article
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
- Published in:
- Liver International, 2024, v. 44, n. 9, p. 2424, doi. 10.1111/liv.16009
- By:
- Publication type:
- Article
Improved Performance of Sulfur-Driven Autotrophic Denitrification Process by Regulating Sulfur-Based Electron Donors.
- Published in:
- Water (20734441), 2024, v. 16, n. 5, p. 730, doi. 10.3390/w16050730
- By:
- Publication type:
- Article
The third case of Marbach‐Rustad progeroid syndrome caused by a de novo LEMD2 variant.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 2, p. 209, doi. 10.1111/cge.14441
- By:
- Publication type:
- Article
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 246, doi. 10.1111/cge.14178
- By:
- Publication type:
- Article
A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 98, doi. 10.1111/cge.13559
- By:
- Publication type:
- Article
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The EGFR‐P38 MAPK axis up‐regulates PD‐L1 through miR‐675‐5p and down‐regulates HLA‐ABC via hexokinase‐2 in hepatocellular carcinoma cells.
- Published in:
- Cancer Communications, 2021, v. 41, n. 1, p. 62, doi. 10.1002/cac2.12117
- By:
- Publication type:
- Article
Accelerated Photocatalytic Degradation of Sulfamethoxazole and Cefixime: A Comprehensive Study of Biotoxicity, Degradation Kinetics and Pathway.
- Published in:
- Water, Air & Soil Pollution, 2024, v. 235, n. 6, p. 1, doi. 10.1007/s11270-024-07148-8
- By:
- Publication type:
- Article
Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China.
- Published in:
- 2013
- By:
- Publication type:
- Abstract