1,243 results on '"KABRA, MADHULIKA"'
Search Results
2. Clinico-Radiological and Genotypic Spectrum of Nuclear Mitochondriopathies
3. Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
4. Hematopoietic Stem Cell Transplantation for Storage Disorders: Present Status
5. Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
6. The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance
7. Unexplained Intellectual Disability: Diagnostic Workflow Moving Towards “Exome Sequencing First Approach”?
8. Not Everything That Shines on CT Scan is TORCH!
9. Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality
10. A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome
11. Cornelia de Lange syndrome in diverse populations
12. Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics
13. Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
14. Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide
15. Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of Age
16. Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
17. Pattern of CYP3A5 and MDR-1 single nucleotide polymorphism and its impact on Tacrolimus levels and clinical outcomes in living renal allograft recipient
18. Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis
19. Late onset Pompe Disease in India – Beyond the Caucasian phenotype
20. Association of Sleep Apnea With Development and Behavior in Down Syndrome: A Prospective Clinical and Polysomnographic Study
21. ECEL1 related distal arthrogryposis 5D in an Indian cohort—Report of recognizable musculoskeletal phenotype and a possible founder variant.
22. Wilson Disease—Genomic Complexities Yet to Be Unveiled!
23. Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension
24. First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India
25. ‘Go for it, dream big, work hard and persist’: A message to the next generation of CF leaders in recognition of International Women's Day 2020
26. Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease
27. Split‐hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India
28. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
29. Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!
30. Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases
31. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
32. A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review
33. Phylogeny and evolution of SARS-CoV-2 during Delta and Omicron variant waves in India.
34. Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.
35. Hand Radiographs in Skeletal Dysplasia: A Pictorial Review
36. Minimally invasive autopsy in the evaluation of fetal malformations and stillbirths: A feasibility study
37. Methylene Tetrahydrofolate Reductase Deficiency
38. A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability
39. Effects of Exercise Intervention Program on Bone Mineral Accretion in Children and Adolescents with Cystic Fibrosis: A Randomized Controlled Trial
40. Identification of novel variants in a large cohort of children with Tay–Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India
41. Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment
42. Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
43. Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis
44. Hypomelanosis of Ito with hemimegalencephaly
45. Faces of Fibrodysplasia Ossificans Progressiva: Lessons from a Clinical Masquerader
46. Ethylmalonic encephalopathy masquerading as malabsorption syndrome - A case report
47. Prevalence of Sleep Abnormalities in Indian Children With Autism Spectrum Disorder: A Cross-Sectional Study
48. Influence of MDR1 and CYP3A5 genetic polymorphisms on trough levels and therapeutic response of imatinib in newly diagnosed patients with chronic myeloid leukemia
49. Cardiovascular Autonomic Dysfunction in Children and Adolescents With Rett Syndrome
50. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India
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