madhulika kabra

Employment

Employment history is unavailable.

Education

• SMS Medical College and Hospital MD Pediatrics
  1984 - 1987

Projects & Funding

Projects & funding information is unavailable.

Publications (211)

• Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.
  2017
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• Cardiovascular autonomic dysfunction in children and adolescents with Rett syndrome
  Pediatric Neurology 2017 DOI: 10.1016/j.pediatrneurol.2017.01.010
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• 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.
  2016 DOI: 10.1016/j.jdermsci.2016.12.020
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• Congenital Cytomegalovirus Infection and Permanent Hearing Loss in Rural North Indian Children.
  2016 DOI: 10.1097/inf.0000000000001527
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• Caffey's Disease: Two Cases Presenting with Unexplained Fever.
  2016
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• Genetically Determined Chronic Pancreatitis but not Alcoholic Pancreatitis Is a Strong Risk Factor for Pancreatic Cancer
  Pancreas 2016 DOI: 10.1097/mpa.0000000000000684
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• Genetically Determined Chronic Pancreatitis but not Alcoholic Pancreatitis Is a Strong Risk Factor for Pancreatic Cancer.
  2016
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• Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy-Walker malformation - a yet uncharacterized syndrome.
  2016 DOI: 10.1111/cge.12830
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• Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
  2016 DOI: 10.1002/ajmg.a.37817
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• Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients – A study from a tertiary care genetic centre in India
  Gene 2016 DOI: 10.1016/j.gene.2016.06.020
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