44 results on '"Chang, Guoying"'
Search Results
2. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
3. Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia
4. Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
5. Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China
6. Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities
7. Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children
8. Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.
9. Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of <italic>GATA6</italic> gene
10. A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
11. Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
12. Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype
13. Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome
14. Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.
15. Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants
16. Diagnosis of patients with mucopolysaccharidosis type II via RNA sequencing
17. Additional file 1 of Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China
18. Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
19. Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
20. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth
21. Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients
22. Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
23. Additional file 1 of Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
24. Additional file 1 of A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report
25. Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia
26. Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
27. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
28. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure
29. SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS
30. Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
31. A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review.
32. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
33. A de novo variant in ZBTB18gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review
34. SIDT2 is involved in the NAADP-mediated release of calcium from insulin secretory granules
35. The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency
36. Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by Rare ABCC6 Mutation.
37. Clinical characteristics and genetic analysis of a child with specific type of diabetes mellitus caused by missense mutation of GATA6 gene.
38. [Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
39. [Clinical characteristics and genetic analysis of a patient with STISS syndrome due to variant of PSMD12 gene].
40. [Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case].
41. [Analysis of ALMS1 gene variants in seven patients with Alström syndrome].
42. [Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants].
43. [Analysis of clinical manifestation and genetic mutation in a child with X-linked chondrodysplasia punctata 2].
44. [A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16].
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