Mamta Muranjan

Down syndrome:

Maina Kava, Milind S. Tullu, Mamta Muranjan et al. · Archives of Medical Research · 2004 · 87 citations

The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham et al. · Human Mutation · 2018 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri et al. · BMC Medical Genetics · 2019 · 67 citations · Full text

Life Sciences, Genetics, Pathology +17

Anticonvulsant Hypersensitivity Syndrome: Lymphocyte Toxicity Assay for the Confirmation of Diagnosis and Risk Assessment

Sandeep B Bavdekar, Mamta Muranjan, Nithya Gogtay et al. · Annals of Pharmacotherapy · 2004 · 50 citations

Medicine, Pharmacology, Toxicology +13

Study of Takayasu's arteritis in children: clinical profile and management.

Mamta Muranjan, Sandeep B Bavdekar, V More et al. · PubMed · 2000 · 46 citations

Medicine, Internal Medicine, Pediatrics +11