Search

Your search keyword '"Astuti, Galuh"' showing total 48 results

Search Constraints

Start Over You searched for: Author "Astuti, Galuh" Remove constraint Author: "Astuti, Galuh"
48 results on '"Astuti, Galuh"'

Search Results

1. Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases

3. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

4. Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4

5. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

11. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

12. Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

13. Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

14. Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

16. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility

18. Wnt genes in colonic polyposis predisposition

20. Wnt genes in colonic polyposis predisposition

22. Common and rare variants in patients with early onset drusen maculopathy

23. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

24. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

25. Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

26. A de novo paradigm for male infertility

28. Presence of Genetic Variants Among Young Men With Severe COVID-19

29. Persepsi warga PKK tentang bina keluarga balita holistik integratif di Kecamatan Karangrejo, Kabupaten Tulungagung / Galuh Ginanjar Astuti

30. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

34. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

35. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

36. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

37. Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

40. Novel insights into the molecular pathogenesis ofCYP4V2‐associated Bietti's retinal dystrophy

41. Hubungan antara citra tubuh dengan perilaku konsumtif produk kosmetik pada mahasiswi Universitas Negeri Malang / Galuh Sukma Astuti

42. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

43. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

44. Inherited variants in CHD3demonstrate variable expressivity in Snijders Blok-Campeau syndrome

45. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

46. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

48. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.

Catalog

Books, media, physical & digital resources