186 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. Resolving fetal hydrops – A rare entity
9. Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature
10. COMPARISON OF ORAL CLONIDINE AND ORAL MIDAZOLAM AS PRE-MEDICATION FOR PEDIATRIC SURGERY IN CHILDREN
11. Structural and electrial properties of Cu2S/CdS thin film heterostructure
12. Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data
13. Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis
14. Phenotypic characterization of derivative 22 syndrome: case series and review
15. 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
16. Design construction and performance of nanostructured p-Cu2S/n-CdS junction diode
17. 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
18. 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.
19. Partial hanging with multiple pesticide poisoning: A case report of a complex suicide
20. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights [Corrigendum]
21. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights
22. Integrated Management Strategies for Epidermolysis Bullosa: Current Insights [Corrigendum]
23. 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
24. Monosomy 1p36: Report of a cohort of 13 Asian Indian patients
25. Management of pregnant female with Haemophilia-A: A case report
26. Consanguinity as an Adjunct Diagnostic Tool
27. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance
28. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
29. Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants
30. Prenatal presentation of a blended phenotype due to partial monosomy 9p and partial trisomy 2p
31. Research Letters
32. Measurements of atmospheric electrical conductivities during the total solar eclipse of 22 July, 2009
33. 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
34. Effect of orographic features on global atmospheric electrical parameters over 160 different places of United States
35. Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature.
36. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants.
37. Koolen‐de Vries syndrome: First report of two unrelated Indian patients
38. Carrier frequency of SMN1 ‐related spinal muscular atrophy in north Indian population: The need for population based screening program
39. Gut microbial colonisation in premature neonates predicts neonatal sepsis
40. Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
41. Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center
42. Recurrent miscarriage in North Indian population: a study of association of polymorphisms in genes coding for the natural killer: cell receptor natural killer group 2, member D and its ligand MHC class I chain-related protein A
43. Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature
44. Atopic dermatitis: Clinical connotations, especially a focus on concomitant atopic undertones in immunocompromised/susceptible genetic and metabolic disorders
45. Biochemical characterization of chloromethane emission from the wood-rotting fungus Phellinus pomaceus
46. Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.
47. Atopic dermatitis: A cross-sectional (descriptive) study of 100 cases
48. Atopic dermatitis; Etio-pathogenesis, An overview
49. Conformational changes play a role in regulating the activity of the proline utilization pathway-specific regulator in Saccharomyces cerevisiae
50. Cytogenetic microarray in structurally normal and abnormal foetuses: a five years experience elucidating increasing acceptance and clinical utility
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