Hasil Pencarian - Gautham Arunachal

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  1. 1
    Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report

    Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report oleh Chithra Uppinkudru, Rakshathi Basavaraju, Gautham Arunachal Udupi, Urvakhsh Meherwan Mehta

    Diterbitkan 2024-05-01
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  2. 2
    Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort

    Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort oleh Nikhat Khan, Anuja Lipsa, Gautham Arunachal, Mukta Ramadwar, Rajiv Sarin

    Diterbitkan 2017-05-01
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  3. 3
    Hajdu Cheney Syndrome

    Hajdu Cheney Syndrome oleh Shini Susan Samuel, Shrinath Shetty, Gautham Arunachal, Santosh Koshy, Thomas Vizhalil Paul

    Diterbitkan 2016-02-01
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  4. 4
    Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis

    Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis oleh Swati Rathore, Liji Sarah David, Manisha Madhai Beck, Mandeep Singh Bindra, Gautham Arunachal

    Diterbitkan 2015-11-01
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  5. 5
    Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male

    Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male oleh Gautham Arunachal, Madhura Milind Nimonkar, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S. Markandeya

    Diterbitkan 2024-04-01
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  6. 6
    ADCY5-related dyskinesia: A genetic cause of early-onset chorea-report of two cases and a novel mutation

    ADCY5-related dyskinesia: A genetic cause of early-onset chorea-report of two cases and a novel mutation oleh Hansashree Padmanabha, Somdattaa Ray, Rohan Mahale, Gautham Arunachal, Pratibha Singhi, Pooja Mailankody, Mathuranath Pavagada

    Diterbitkan 2021-01-01
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  7. 7
    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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  8. 8
    Parkinsonism, olivary hypertrophy and cerebellar atrophy with TTC19 gene mutation

    Parkinsonism, olivary hypertrophy and cerebellar atrophy with TTC19 gene mutation oleh Rohan R Mahale, Gautham Arunachal, Jyothi Gautam, Debayan Dutta, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, P S Mathuranath

    Diterbitkan 2021-01-01
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  9. 9
    OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy

    OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy oleh Agam Jain, Saraswati Nashi, Pooja Mailankody, P. R. Srijithesh, Girish B. Kulkarni, Suvarna Alladi, Saloni Bhatia, Gautham Arunachal

    Diterbitkan 2024-06-01
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  10. 10
    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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  11. 11
    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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  12. 12
    Pseudo-neonatal adrenoleukodystrophy: A rare peroxisomal disorder

    Pseudo-neonatal adrenoleukodystrophy: A rare peroxisomal disorder oleh Cheshta Arora, Hansashree Padmanabha, Rita Christopher, Rohan Mahale, Maya Bhat, Gautham Arunachal, Ravi Shekhar, Pooja Mailankody, P S Mathuranath

    Diterbitkan 2022-01-01
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  13. 13
    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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  14. 14
    Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

    Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder oleh Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Sniya Valsa Sudhakar, Samuel Philip Oommen, Shikha Jain, Maya Thomas, Manimegalai Babuji

    Diterbitkan 2020-01-01
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  15. 15
    Generation and characterisation of a human induced pluripotent stem cell line, NIMHi007-A, from peripheral blood mononuclear cells derived from an adult healthy female

    Generation and characterisation of a human induced pluripotent stem cell line, NIMHi007-A, from peripheral blood mononuclear cells derived from an adult healthy female oleh Madhura Milind Nimonkar, Gautham Arunachal, Suravi Sasmita Dash, Swapna Kannothum Kandy, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S Markandeya

    Diterbitkan 2023-08-01
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  16. 16
    L-2-Hydroxyglutaric aciduria: An ever-expanding phenotypic spectrum

    L-2-Hydroxyglutaric aciduria: An ever-expanding phenotypic spectrum oleh Sneha Dayanand Kamath, Maya Dattatraya Bhat, Vani Santhosh, Gautham Arunachal, A R Prabhuraj, Karthik Kulanthaivelu, Sabha Ahmed, Ajay Asranna, Raghavendra Kenchaiah

    Diterbitkan 2023-01-01
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  17. 17
    Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant

    Generation of induced pluripotent stem cell line, NIMHi013-A, from PBMCs of a female child with epilepsy carrying a novel SCN1A variant oleh Gautham Arunachal, Madhura Milind Nimonkar, Pavithra Mahadeva, Ramya Sukrutha, Kenchaiah Raghavendra, Ghati K. Chetan, Manjunatha M. Venkataswamy, Bhupesh Mehta, Yogananda S. Markandeya

    Diterbitkan 2024-12-01
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  18. 18
    Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual

    Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual oleh Suravi Sasmita Dash, Gautham Arunachal, Madhura Milind Nimonkar, Seena Vengalil, Saraswati Nashi, Ghati K. Chetan, Vijay Kumar Boddu, Atchayaram Nalini, Yogananda S. Markandeya

    Diterbitkan 2024-04-01
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  19. 19
    DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia

    DYT30 due to VPS16 mutation: An etiology of childhood-onset generalized dystonia oleh Sridhar Shashi, Saraswati Nashi, Gautham Arunachal, N Venkatachalam, Hansashree Padmanabha, Pooja Mailankody, Deepak Menon, Faheem Arshad, Suvarna Alladi, Pavagada Mathuranath, Rohan R Mahale

    Diterbitkan 2023-01-01
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  20. 20
    Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy

    Pontine Tegmental Cap Dysplasia: A Rare Brainstem Malformation Mimicking Hereditary Sensory Autonomic Neuropathy oleh AR Nagaraj, Guduru Shravanthi, Tumulu Kumar, Tumulu Seetam Kumar, Raghavendra Kenchiah, Rohan Mahale, M Sandhya, Gautham Arunachal Udupi, Pooja Mailankody, PS Mathuranath, Hansashree Padmanabha

    Diterbitkan 2024-04-01
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