48 results on '"Astuti, Galuh"'
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2. Automatized detection of uniparental disomies in a large cohort
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
6. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients
7. Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing
8. Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
9. CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
10. Exome sequencing identifies novel genes and variants in patients with Hirschsprung disease
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
15. Strategi Bertahan Hidup Keluarga Miskin di Tepi Rel Kereta Api Sekitar Stasiun Pasar Senen
16. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility
17. The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies
18. Wnt genes in colonic polyposis predisposition
19. PELATIHAN PENYUSUNAN ANGGARAN DAN PELAPORAN KEUANGAN SEDERHANA USAHA ONLINE BAGI RINTISAN BISNIS MAHASISWA UNIVERSITAS KATOLIK WIDYA KARYA MALANG
20. Wnt genes in colonic polyposis predisposition
21. Common and rare variants in patients with early onset drusen maculopathy
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
27. PENGARUH PEMBERIAN YOGHURT DAN SOYGHURT SINBIOTIK KAYU MANIS (Cinnamomum burmanii) TERHADAP KADAR TRIGLISERIDA DAN TOTAL KOLESTEROL PADA TIKUS PRA-SINDROM METABOLIK
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
31. Evaluasi Sistem Pengendalian Internal Dan Rekomendasi Yang Tepat Terhadap Penerimaan Dan Pengeluaran Kas Pada Hotel XYZ Dengan Metode Coso Framework
32. Pengaruh Kepemilikan Manajemen, Institusi Dan Keluarga Terhadap Kebijakan Hutang Dengan Profitabilitas Sebagai Variabel Intervening Pada Perusahaan Yang Terdaftar Di BEI
33. Author Response: Penetrance of theABCA4p.Asn1868Ile Allele in Stargardt Disease
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
38. Relevansi Hukum Pidana Adat Dalam Pembaharuan Hukum Pidana di Indonesia
39. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
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.
47. Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease.
48. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
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