Author: "Vrisha, Madhuri" / Journal: indian journal of pediatrics - Searchworks@Jio Institute Digital Library Search Results

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Your search keyword '"Vrisha, Madhuri"' showing total 3 results

Start Over Author "Vrisha, Madhuri" Journal indian journal of pediatrics

3 results on '"Vrisha, Madhuri"'

1. A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta

Author: Agnes Selina, Deeptiman James, and Vrisha Madhuri
Subjects: Pediatrics, Perinatology and Child Health
Published: 2023

2. A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia

Author: Vrisha Madhuri, Agnes Selina, and Madhavi Kandagaddala
Subjects: business.industry, Pediatrics, Perinatology and Child Health, Anemia, Refractory, medicine, MEDLINE, Humans, Bioinformatics, Ghosal hematodiaphyseal dysplasia, medicine.disease, business, TBXAS1 gene, Osteochondrodysplasias
Published: 2020

3. MATN3 Mutation Causing Spondyloepimetaphyseal Dysplasia

Author: L G Shyamasundar, Vrisha Madhuri, Lakshmi Loganathan, Ashis Kumar, and Agnes Selina
Subjects: Genetics, Spondyloepimetaphyseal dysplasia, Genotype, business.industry, India, Infant, medicine.disease, Osteochondrodysplasias, Phenotype, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, medicine, Humans, Matrilin Proteins, Genetic Predisposition to Disease, business
Published: 2019

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