219 results on '"Zou, Chao-Chun"'
Search Results
2. Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
3. Gene variants and clinical characteristics of children with sitosterolemia
4. Orthopedic manifestations in children with Prader-Willi syndrome
5. Effects of early recombinant human growth hormone treatment in young Chinese children with Prader–Willi syndrome
6. Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review
7. Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts
8. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
9. Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report
10. An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis)
11. Gene mutations and clinical features of pediatric sitosterolemia
12. Orthopedic manifestations in children with Prader-Willi syndrome
13. Quality of life in caregivers of young children with Prader–Willi syndrome
14. Overview of genetic testing in Prader-Willi syndrome
15. WITHDRAWN: A cohort study on growth hormone therapy in Chinese children with Prader-Willi syndrome – the effect of treatment age
16. Sepsis-induced Pancytopenia in an Adolescent Girl with Thyroid Storm: A Case Report
17. 13q22.1-q32.1 Microdeletion Syndrome
18. Prader-Willi Syndrome Coincident with DiGeorge Syndrome
19. Clinical Features of Patients With 7p22.1 Microdeletion
20. Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review
21. Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
22. Clinical Features in Patients with Microdeletion at 6q14.1-q15
23. Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report
24. Trisomy 18 and Microdeletion 18p Mosaicism: A case report and literature review
25. Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
26. Double trisomy 48,XXX,+18 with multiple dysmorphic features
27. Different AHO phenotype in a Chinese family with a novel GNAS missense mutation: a case report
28. Loss of Heterozygosity on the Distal Long Arm of Chromosome 15: An Allusion for Prader-willi Syndromes?
29. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
30. Variants of 11β-hydroxysteroid dehydrogenase (HSD11B) gene type 1 and 2 in Chinese obese adolescents
31. Childhood pancreatoblastoma: Clinical features and immunohistochemistry analysis
32. Childhood Kikuchi-Fujimoto disease
33. Melamine-contaminated milk products induced urinary tract calculi in children
34. Glucose metabolism disorder in obese children assessed by continuous glucose monitoring system
35. 6q25.1-q25.3 Microdeletion in a Chinese Girl
36. Prader-Willi Syndrome: Molecular Mechanism and Epigenetic Therapy
37. Vitamin C deficiency aggravates tumor necrosis factor α-induced insulin resistance
38. Chinese Siblings with Prader-Willi Syndrome Inherited from Their Paternal Grandmother
39. Effects of short- and long-acting recombinant human growth hormone (PEG-rhGH) on left ventricular function in children with growth hormone deficiency
40. Carotid Intima-Media Thickness and Serum Endothelial Marker Levels in Obese Children With Metabolic Syndrome
41. Prader-Willi Syndrome Coincident with DiGeorge Syndrome
42. Childhood minimally invasive follicular carcinoma: Clinical features and immunohistochemistry analysis
43. Elevated tumour necrosis factor-alpha was associated with intima thickening in obese children
44. Cleidocranial Dysplasia: Report of 3 Cases and Literature Review
45. The change in ghrelin and obestatin levels in obese children after weight reduction
46. Peripheral precocious puberty: A retrospective study for six years in Hangzhou, China
47. Polymorphisms of the ghrelin/obestatin gene and ghrelin levels in Chinese children with short stature
48. Childhood Weber–Christian disease: clinical investigation and virus detection
49. Clinical and molecular analysis of NF-κB essential modulator in Chinese incontinentia pigmenti patients
50. Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
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