37 results on '"Su, Jiasun"'
Search Results
2. CNV profiles of Chinese pediatric patients with developmental disorders
3. The first two Chinese Myhre syndrome patients with the recurrent SMAD4 pathogenic variants: Functional consequences and clinical diversity
4. Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4
5. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
6. A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5
7. Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
8. Etiology and Outcome of non-immune Hydrops Fetalis in Southern China: report of 1004 cases
9. Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion
10. Clinical application of whole-exome sequencing: A retrospective, single-center study
11. The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling
12. Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China
13. Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
14. Targeted addition of mini-dystrophin into rDNA locus of Duchenne muscular dystrophy patient-derived iPSCs
15. Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
16. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship
17. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : evidence supporting a "Definitive" gene-disease relationship
18. Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations
19. Novel pathogenic RECQL4 variants in Chinese patients with Rothmund-Thomson syndrome
20. Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates
21. Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism
22. The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH
23. Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants
24. Mosaic UPD(7q)mat in a patient with silver Russell syndrome
25. Novel pathogenic ACAN variants in non-syndromic short stature patients
26. Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism
27. A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33
28. Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients
29. Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability
30. Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism
31. Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients
32. de novo interstitial deletions at the 11q23.3-q24.2 region
33. Mutation screening of theTPOgene in a cohort of 192 Chinese patients with congenital hypothyroidism
34. Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism
35. PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism
36. [Comparison of performance of two prenatal diagnostic techniques for the detection of chromosomal mosaicisms in amniocytes].
37. Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
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