242 results on '"Luo, Jingsi"'
Search Results
2. Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variation
3. Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review
4. Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant
5. A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities
6. Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
7. De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy
8. Novel and recurrent ASPM mutations of founder effect in Chinese population
9. Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses
10. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
11. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation
12. Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2
13. Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report
14. Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability
15. CNV profiles of Chinese pediatric patients with developmental disorders
16. Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality.
17. A genetic variant in the MAST1 gene is associated with mega‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
18. Genetic Basis of Congenital Central Hypothyroidism in Children: Expanding the Mutational Spectrum of POU1F1 and ATP6V0A4
19. A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals
20. Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene
21. Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia
22. Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
23. A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
24. Case report: A de novo NSD2 truncating variant in a child with Rauch-Steindl syndrome
25. Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy
26. Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
27. WITHDRAWN: Effects of pH on Ochrobactrum immobilises heavy metals during fly ash–sludge co-pyrolysis
28. Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review
29. Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
30. Novel Synonymous and Frameshift Variants in theTRIP12Gene Identified in 2 Chinese Patients With Intellectual Disability
31. Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi
32. De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
33. Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
34. De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
35. Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.
36. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
37. Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
38. Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies.
39. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study
40. A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
41. 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
42. Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
43. A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children
44. A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
45. Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature
46. Pretreatment with Ochrobactrum immobilizes chromium and copper during sludge pyrolysis
47. Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome
48. Two novel mutations in DNAJC12 identified by whole‐exome sequencing in a patient with mild hyperphenylalaninemia
49. Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy
50. PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus
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