Search Results - "Perala, Sreeja"

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  1. 1
    A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

    A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4 by Ranganath, Prajnya, Perala, Sreeja, Nair, Lekshmi, Pamu, Pramod Kumar, Shankar, Aparna, Murugan, Sakthivel, Dalal, Ashwin

    Published in European journal of human genetics : EJHG (01-05-2020)
    “…The T-box4 (TBX4) gene (OMIM *601719) belongs to the T-box family of transcription regulators that share a conserved homology domain and are expressed at…”
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  2. 2
    eP465: Role of next-generation sequencing in the evaluation of families with non-immune fetal hydrops

    eP465: Role of next-generation sequencing in the evaluation of families with non-immune fetal hydrops by Ranganath, Prajnya, Perala, Sreeja, Rasheed, Nausheen

    Published in Genetics in medicine (01-03-2022)
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  3. 3
    Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

    Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India by Tallapaka, Karthik, Ranganath, Prajnya, Ramachandran, Angalena, Uppin, Megha S., Perala, Sreeja, Aggarwal, Shagun, Lakshmi, Dhanya, Meena, A. K., Dalal, Ashwin B.

    Published in Indian pediatrics (01-07-2019)
    “…Objective To study the histopathological characteristics and mutation spectrum of patients presenting with the Duchenne muscular dystrophy (DMD) phenotype…”
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