Hasil Pencarian - Sumita Danda

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  1. 1
    Restrictive Dermopathy

    Restrictive Dermopathy oleh Atanu Kumar Dutta, Sumita Danda

    Diterbitkan 2016-06-01
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  2. 2
    P262: First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings

    P262: First genetically confirmed case of Schinzel-Giedion syndrome from India and literature review of neuroradiological findings oleh Pavalan Panneer Selvam, Paramasivam G, Sumita Danda

    Diterbitkan 2023-01-01
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  3. 3
    Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: Insights from a tertiary care medical genetics unit in South India

    Analysis of phenotypic characteristics and mutation patterns in syndromic craniofacial anomalies: Insights from a tertiary care medical genetics unit in South India oleh Rekha Aaron, Roopa Kunthavai Chellappa, Sumita Danda

    Diterbitkan 2024-08-01
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  4. 4
    Late onset multiple Acyl-CoA dehydrogenase deficiency: A rare treatable neurometabolic disorder

    Late onset multiple Acyl-CoA dehydrogenase deficiency: A rare treatable neurometabolic disorder oleh Sophy Korula, Sangeetha Yoganathan, Jeyanthi Peter, Mahalakshmi Chandran, Chrithunesa S Christudass, Sumita Danda

    Diterbitkan 2022-01-01
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  5. 5
    PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

    PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease oleh Dincy C. V Peter, Frances J. D Smith, Neil J Wilson, Sumita Danda

    Diterbitkan 2021-01-01
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  6. 6
    Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia

    Imaging findings in TRPM6-Related hypomagnesemia with secondary hypocalcemia oleh Prateek Malik, Sayli Umakant Bidkar, Sangeetha Yoganathan, Sarah Mathai, Sumita Danda, Beena Koshy

    Diterbitkan 2021-01-01
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  7. 7
    Clinico-etiological spectrum and functional outcomes of children with pre-status dystonicus and Status Dystonicus (SD): A descriptive study

    Clinico-etiological spectrum and functional outcomes of children with pre-status dystonicus and Status Dystonicus (SD): A descriptive study oleh Shridhar P Joshi, Maya Thomas, Sangeetha Yoganathan, Sumita Danda, Mahalakshmi Chandran, Anitha Jasper

    Diterbitkan 2023-01-01
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  8. 8
    SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India

    SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India oleh Agnes Selina, Madhavi Kandagaddala, Vignesh Kumar, Suneetha Susan Cleave Abraham, Sumita Danda, Vrisha Madhuri

    Diterbitkan 2023-06-01
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  9. 9
    Phenotypic pleiotropy in arginase deficiency: A single center cohort

    Phenotypic pleiotropy in arginase deficiency: A single center cohort oleh Narmadham K Bharathi, Maya Mary Thomas, Sangeetha Yoganathan, Mahalakshmi Chandran, Rekha Aaron, Sumita Danda

    Diterbitkan 2022-01-01
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  10. 10
    Menkes disease and response to copper histidine: An Indian case series

    Menkes disease and response to copper histidine: An Indian case series oleh Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda

    Diterbitkan 2017-01-01
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  11. 11
    Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder

    Child with D-2-hydroxyglutaric aciduria type II: A rare neurometabolic disorder oleh Rangan Srinivasaraghavan, Suvasiniz Sharma, Lisa Kratz, Prateek Malik, Sangeetha Yoganathan, Sumita Danda, Samuel Philip Oommen

    Diterbitkan 2021-01-01
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  12. 12
    CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context

    CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south IndiaResearch in context oleh Sneha D. Varkki, Rekha Aaron, Aaron Chapla, Sumita Danda, Priyanka Medhi, N. Jansi Rani, Grace R. Paul

    Diterbitkan 2024-08-01
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  13. 13
    Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1

    Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1 oleh Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya V Sudhakar, Samuel P Oommen, Sumita Danda

    Diterbitkan 2021-01-01
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  14. 14
    Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

    Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency oleh Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda

    Diterbitkan 2020-01-01
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  15. 15
    Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis

    Genome-Wide DNA Methylation Profiling in CD8 T-Cells and Gamma Delta T-Cells of Asian Indian Patients With Takayasu Arteritis oleh Jayakanthan Kabeerdoss, Jayakanthan Kabeerdoss, Debashish Danda, Ruchika Goel, Hindhumathi Mohan, Sumita Danda, R. Hal Scofield, R. Hal Scofield

    Diterbitkan 2022-06-01
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  16. 16
    The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account

    The Constitutional Balanced Translocation t(11;22)(q23;q11.2)-An Indian Account oleh Vandana Kamath, Vivi M Srivastava, S Yuvarani, Mary Purna Chacko, Saurabh Kumar Bhattacharya, Samuel Phillip Oommen, Sumita Danda, George Korula

    Diterbitkan 2019-01-01
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  17. 17
    Eye signs in a child with ROBO3 gene mutation

    Eye signs in a child with ROBO3 gene mutation oleh Sangeetha Yoganathan, Madhan Kumar, Mukul Malhotra, Praisy Joy, Sumita Danda, Maya Thomas, Kenny S David, Anitha Jasper, Satheesh Solomon T Selvin

    Diterbitkan 2022-01-01
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  18. 18
    Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder

    Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder oleh Sangeetha Yoganathan, Rangan Srinivasaraghavan, Mahalakshmi Chandran, Lisa Kratz, Beena Koshy, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Sumita Danda

    Diterbitkan 2021-01-01
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  19. 19
    Hereditary folate malabsorption: A rare treatable disorder with hematological and neurological manifestations

    Hereditary folate malabsorption: A rare treatable disorder with hematological and neurological manifestations oleh Madhan Kumar, Sangeetha Yoganathan, Siddarth Todari, Parvathy Suresh, Mahalakshmi Chandran, Sumita Danda, Leni Grace Mathew, Beena Koshy, Maya Thomas

    Diterbitkan 2022-01-01
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  20. 20
    Cri du chat syndrome: A series of five cases

    Cri du chat syndrome: A series of five cases oleh Harsha M Dangare, Samuel P Oommen, Amisha N Sheth, Beena Koshy, Reeba Roshan, Maya M Thomas, Sumita Danda, Vivi M Srivastava

    Diterbitkan 2012-01-01
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