Search Results - "Vineeth, V.S."

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing by Dutta, Usha R., Rao, Sudha N., Pidugu, Vijaya Kumar, V.S., Vineeth, Bhattacherjee, Amrita, Bhowmik, Aneek Das, Ramaswamy, Sathish K., Singh, Kumar Gautam, Dalal, Ashwin

“…Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is…”
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Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups by Ranganath, Priya, Ranganath, Prajnya, Vineeth, V.S., Dalal, Ashwin, Patil, Siddaramappa J.

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Report of an Asian–Indian patient with Okur–Chung Syndrome and comparison of the clinical phenotype in different ethnic groups by Ranganath, Priya, Ranganath, Prajnya, Vineeth, V.S., Dalal, Ashwin, Patil, Siddaramappa J.

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Utility of whole‐exome sequencing in detecting novel compound heterozygous mutations in COL 7A1 among families with severe recessive dystrophic epidermolysis bullosa in India – implications on diagnosis, prognosis and prenatal testing by Mahajan, R., Vellarikkal, S.K., Handa, S., Verma, A., Jayarajan, R., Kumar, A., De, D., Kaur, J., Panigrahi, I., Vineeth, V.S., Sivasubbu, S., Scaria, V.

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Utility of whole‐exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India – implications on diagnosis, prognosis and prenatal testing by Mahajan, R., Vellarikkal, S.K., Handa, S., Verma, A., Jayarajan, R., Kumar, A., De, D., Kaur, J., Panigrahi, I., Vineeth, V.S., Sivasubbu, S., Scaria, V.

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A novel mosaic complex supernumerary marker chromosome in a girl with seizures: systematic characterization of the complex marker by Dutta, Usha R., Bahal, Ashish, Vineeth, V.S., Sarvade, Vasantha, Ranganath, Prajnya, Dalal, Ashwin

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