31 results on '"Narayanan, Dhanya Lakshmi"'
Search Results
2. Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
3. c.202_204del in NUP214 causes late onset form of febrile encephalopathy
4. A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotype
5. Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus
6. Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family
7. Further delineation of KIF21B-related neurodevelopmental disorders
8. eP197: Further delineation of KIF21B-related neurodevelopmental disorders
9. Bi-allelic variants inCHKAcause a neurodevelopmental disorder with epilepsy and microcephaly
10. Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90
11. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly
12. KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature
13. Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
14. Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect
15. Understanding Exome Sequencing: Tips for the Pediatrician
16. Genetic disorders with central nervous system white matter abnormalities: An update
17. Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing
18. Exome sequencing for perinatal phenotypes: The significance of deep phenotyping
19. Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children
20. Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype
21. Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
22. Malan syndrome: Extension of genotype and phenotype spectrum
23. Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know
24. Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies
25. Hotspots in PTPN11 gene among Indian children with Noonan syndrome
26. Metatropic dysplasia with a novel mutation in TRPV4
27. Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene
28. Hunter syndrome in northern India: Clinical features and mutation spectrum
29. Infantile Systemic Hyalinosis with Mutation in ANTXR2
30. Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study
31. Sirenomelia: Case Reports and Current Concepts of Pathogenesis
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.