50 results on '"Saxena, Deepti"'
Search Results
2. Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing
3. Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
4. Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
5. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum
6. Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
7. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants
8. Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis
9. Phenotypic characterization of derivative 22 syndrome: case series and review
10. Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients: A prospective cohort study conducted at a tertiary care center in Northern India.
11. The size effect on the optical-electrical properties of Cu2S/CdS thin film towards the performance on Ag/p-Cu2S/n-CdS/ATO heterojunction diode
12. Design construction and performance of nanostructured p-Cu2S/n-CdS junction diode
13. Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
14. A combined experimental and quantum chemical studies on molecular structure, spectral properties, intra and intermolecular interactions and first hyperpolarizability of 4-(benzyloxy)benzaldehyde thiosemicarbazone and its dimer
15. Consanguinity as an Adjunct Diagnostic Tool
16. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
17. Resolving fetal hydrops – A rare entity
18. Research Letters
19. Measurements of atmospheric electrical conductivities during the total solar eclipse of 22 July, 2009
20. Diversity-oriented synthesis of benzimidazole, benzoxazole, benzothiazole and quinazolin-4(3H)-one libraries via potassium persulfate–CuSO4-mediated oxidative coupling reactions of aldehydes in aqueous micelles
21. Effect of orographic features on global atmospheric electrical parameters over 160 different places of United States
22. Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
23. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.
24. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
25. Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
26. Gut microbial colonisation in premature neonates predicts neonatal sepsis
27. Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
28. Atopic dermatitis: Clinical connotations, especially a focus on concomitant atopic undertones in immunocompromised/susceptible genetic and metabolic disorders
29. Partial hanging with multiple pesticide poisoning: A case report of a complex suicide
30. Management of pregnant female with Haemophilia-A: A case report.
31. Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
32. Atopic dermatitis: A cross-sectional (descriptive) study of 100 cases
33. Atopic dermatitis; Etio-pathogenesis, An overview
34. Conformational changes play a role in regulating the activity of the proline utilization pathway-specific regulator in Saccharomyces cerevisiae
35. Inhibition of HIV-1 gene expression by Ciclopirox and Deferiprone, drugs that prevent hypusination of eukaryotic initiation factor 5A
36. Koolen‐de Vries syndrome: First report of two unrelated Indian patients.
37. Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program.
38. Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature.
39. Pycnodysostosis: mutation spectrum in five unrelated Indian children.
40. Drug-Based Lead Discovery: The Novel Ablative Antiretroviral Profile of Deferiprone in HIV-1-Infected Cells and in HIV-Infected Treatment-Naive Subjects of a Double-Blind, Placebo-Controlled, Randomized Exploratory Trial.
41. Nanoparticle catalyzed reaction (NPCR): ZnO-NP catalyzed Ugi-reaction in aqueous medium.
42. Drug-Induced Reactivation of Apoptosis Abrogates HIV-1 Infection.
43. Measurements of atmospheric aerosol concentration of various sizes during monsoon season at Roorkee, India.
44. Biochemical Characterization of Chloromethane Emission from Wood-Rotting Fungus Phellinus pomaceus.
45. Cytogenetic microarray in structurally normal and abnormal foetuses: a five years experience elucidating increasing acceptance and clinical utility.
46. ChemInform Abstract: Nanoparticle Catalyzed Reaction (NPCR): ZnO-NP Catalyzed Ugi-Reaction in Aqueous Medium.
47. ChemInform Abstract: Diversity-Oriented Synthesis of Benzimidazole, Benzoxazole, Benzothiazole and Quinazolin-4(3H)-one Libraries via Potassium Persulfate-CuSO4-Mediated Oxidative Coupling Reactions of Aldehydes in Aqueous Micelles.
48. Williams syndrome: a case series.
49. Inhibition of HIV-1 gene expression by Ciclopirox and Deferiprone, drugs that prevent hypusination of eukaryotic initiation factor 5A.
50. Rapamycin treatment results in GATA factor-independent hyperphosphorylation of the proline utilization pathway activator in Saccharomyces cerevisiae.
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