382 results on '"Yu, Yongguo"'
Search Results
2. Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
3. Gut microbiota and metabolic changes in children with idiopathic short stature
4. Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling
5. BR-ChromNet: Banding resolution localization of chromosome structural abnormality with conditional random field
6. Genome-wide epigenetic signatures facilitated the variant classification of the PURA gene and uncovered the pathomechanism of PURA-related neurodevelopmental disorders
7. KaryoXpert: An accurate chromosome segmentation and classification framework for karyotyping analysis without training with manually labeled metaphase-image mask annotations
8. A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
9. Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia
10. A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
11. Enhanced genome editing to ameliorate a genetic metabolic liver disease through co-delivery of adeno-associated virus receptor
12. A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment
13. Current Status and Prospects of Screening for Newborn Hereditary Metaboolic Disease
14. HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration
15. Rapid detection of twenty-nine common Chinese glucose-6-phosphate dehydrogenase variants using a matrix-assisted laser desorption/ionization-time of flight mass spectrometry assay on dried blood spots
16. Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders?
17. Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis
18. Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China
19. Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
20. Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation
21. Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from China
22. Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle
23. A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients
24. The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling
25. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome
26. Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
27. Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
28. CCNK gene deficiency influences neural progenitor cells via Wnt5a signaling in CCNK‐related syndrome
29. Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
30. A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
31. Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
32. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia
33. 21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
34. A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGlncauses developmental delay
35. Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
36. Identification of RUNX2 variants associated with cleidocranial dysplasia
37. Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome
38. First synthesis and characterization for the stereoisomers of Ulipristal acetate
39. Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia
40. A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
41. Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools
42. A new and efficient method for the synthesis of Ulipristal acetate
43. MAMLD1 gene mutation in the incidence of hypospadias in the Chinese population
44. Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies
45. A simple and convenient synthetic route to Ulipristal acetate
46. Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
47. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome
48. Age- and gender-dependent obesity in individuals with 16p11.2 deletion
49. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
50. Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
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