68 results on '"KABRA, MADHULIKA"'
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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. 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
10. Physical Growth and Its Determinants in Indian Children with Down Syndrome, from 3 Months to 5 Years of Age
11. Wilson Disease—Genomic Complexities Yet to Be Unveiled!
12. Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension
13. Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed!
14. Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases
15. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
16. Methylene Tetrahydrofolate Reductase Deficiency
17. Effects of Exercise Intervention Program on Bone Mineral Accretion in Children and Adolescents with Cystic Fibrosis: A Randomized Controlled Trial
18. Growth Pattern and Clinical Profile of Indian Children with Classical 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia on Treatment
19. Aquagenic Wrinkling of Skin: A Screening Test for Cystic Fibrosis
20. Echogenic Kidneys as an Antenatal Clue to the Metabolic Etiology: A Case Report
21. Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India
22. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls
23. Duchenne Muscular Dystrophy- Where Genetic Testing is Inevitable and Vital!
24. Report of an Indian Family with Sengers Syndrome
25. Bone mineral density of Indian children and adolescents with cystic fibrosis
26. Spondylometaphyseal Dysplasia Corner Fracture (Sutcliffe) Type
27. Genetic Studies in Autism
28. Smith-Magenis Syndrome: Face Speaks
29. ADRB2 polymorphism and salbutamol responsiveness in Northern Indian children with mild to moderate exacerbation of asthma
30. Editorial
31. Prenatal screening: Perspective for the pediatrician
32. Establishing national neonatal perinatal database and birth defects registry network — Need of the hour!
33. Diagnosis and Management of Down Syndrome
34. At Least an Infantogram if not Perinatal Autopsy
35. Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis
36. National newborn screening program — Still a hype or a hope now?
37. Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings
38. Multiplex PCR for rapid detection of exonal deletions in patients of duchenne muscular dystrophy
39. Caffey’s Disease: Two Cases Presenting with Unexplained Fever
40. Editorial: New Horizons in Genetic Diagnosis in Pediatric Practice: The Excitement and Challenges!
41. Ghosal type hematodiaphyseal dysplasia
42. Mental retardation
43. Schinzel Acrocallosal syndrome
44. Prenatal diagnosis
45. Dietary management of inborn errors of metabolism
46. Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy
47. Hypocalcemic heart failure masquerading as dilated cardiomyopathy
48. Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
49. Infantile-onset leukoencephalopathy with discrepant mild clinical course
50. Fraser-Cryptophthalmos syndrome
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