24 results on '"Chowdhury, Madhumita Roy"'
Search Results
2. A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
3. Pattern of CYP3A5 and MDR-1 single nucleotide polymorphism and its impact on Tacrolimus levels and clinical outcomes in living renal allograft recipient
4. Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
5. List of Contributors
6. Role of cytogenetics and molecular genetics in human health and medicine
7. Role of Cytogenetics and Molecular Genetics in Human Health and Medicine
8. Contributors
9. Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
10. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature
11. Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India
12. Allelic Heterogeneity of Molecular Events in Human Coagulation Factor IX in Asian Indians
13. Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
14. Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.
15. Validation of Polymerase Chain Reaction–Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients
16. Pathogenic/likely pathogenic variants in the SHOX, GHRand IGFALSgenes among Indian children with idiopathic short stature
17. Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
18. Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.
19. Validation of Polymerase Chain Reaction–Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.
20. Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome
21. Factor IX gene polymorphisms in Indian population
22. Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome: A Double-Blind, Randomized, Controlled Pilot Study.
23. Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.
24. Molecular characterization of hemophilia B in North Indian families: identification of novel and recurrent molecular events in the factor IX gene.
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