255 results on '"Qin, Zailong"'
Search Results
2. Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target
3. Single Cell Map of Human Azoospermia Testis Caused by Cyclophosphamide Chemotherapy
4. 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
5. Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review
6. Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant
7. A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities
8. Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations
9. The function and mechanism of lactate and lactylation in tumor metabolism and microenvironment
10. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
11. De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy
12. Novel and recurrent ASPM mutations of founder effect in Chinese population
13. Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses
14. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing
15. Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation
16. Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2
17. Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report
18. HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration
19. Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability
20. Phenotypic and Genotypic Characterization of NPRL3‐Related Epilepsy: Two Case Reports and Literature Review
21. Lactoferrin is required for early B cell development in C57BL/6 mice
22. Eph receptors: the bridge linking host and virus
23. 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.
24. Phenotypic and genotypic characterization of NPRL3‐related epilepsy: Two case reports and literature review.
25. A genetic variant in the MAST1 gene is associated with mega‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
26. A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals
27. Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature
28. Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing‐site variant and a missense variant in the ROBO3 gene
29. LncRNA sequencing reveals an essential role for the lncRNA-mediated ceRNA network in penile squamous cell carcinoma
30. MiR-590-5p, a density-sensitive microRNA, inhibits tumorigenesis by targeting YAP1 in colorectal cancer
31. 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
32. Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
33. A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability
34. Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
35. Phenotypic Spectrum of Trisomy 18 Mosaicism: a New Patient and Literature Review
36. Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations
37. Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
38. Novel Synonymous and Frameshift Variants in theTRIP12Gene Identified in 2 Chinese Patients With Intellectual Disability
39. The function and mechanism of lactate and lactylation in tumor metabolism and microenvironment
40. Lactoferrin suppresses the Epstein–Barr virus-induced inflammatory response by interfering with pattern recognition of TLR2 and TLR9
41. Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes
42. De Novo CSNK2B Mutations in Five Cases of Poirier–Bienvenu Neurodevelopmental Syndrome
43. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
44. Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis
45. Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
46. Inflammation-induced S100A8 activates Id3 and promotes colorectal tumorigenesis
47. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study
48. miR-214 promotes tumorigenesis by targeting lactotransferrin in nasopharyngeal carcinoma
49. A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8
50. Clinical application of whole-exome sequencing: A retrospective, single-center study
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