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558 results on '"Novel variants"'

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1. Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.

2. Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant.

3. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.

4. Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience.

5. Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

6. Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant

7. Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes

8. Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients

9. The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

10. Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.

11. The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.

12. Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency

13. Path analysis of body weight and shell morphological traits in two Pacific abalone (Haliotis discus hannai) strains.

14. Wide spectrum of novel and rare hemoglobin variants in the multi‐ethnic Indian population: A review.

15. Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

16. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings

17. The genetic cause of neurodevelopmental disorders in 30 consanguineous families

19. Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population

20. Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report

23. Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report.

24. The Association of Five Novel Variants of TLR7 Gene with Some Biochemical Markers in Breast Cancer Patients from Iraqi Women.

25. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.

26. Genetic background of primary and familial HLH in Qatar: registry data and population study

27. CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

28. Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria

29. Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China

30. A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities

31. Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2

32. Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria.

33. Novel variants of grasshopper optimization algorithm to solve numerical problems and demand side management in smart grids.

35. Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

36. Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review.

37. CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

38. Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.

39. A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China.

40. Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures

41. Genetic analysis of 55 cases with fetal skeletal dysplasia

42. Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

43. Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.

44. Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.

45. Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

46. Detection of Novel NF1 Variants with Next-Generation DNA Sequencing Technology and Genotype--Phenotype Characteristics of Neurofibromatosis.

47. Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS.

48. Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

49. High-Throughput Next-Generation Sequencing of the Kidd Blood Group: Unexpected Antigen Expression Properties of Four Alleles and Detection of Novel Variants.

50. Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

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