Hasil Pencarian - Neerja Gupta

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  1. 1
    Multidisciplinary team for genetic disorders – Integration with clinicians and health-care professionals

    Multidisciplinary team for genetic disorders – Integration with clinicians and health-care professionals oleh Mounika Endrakanti, Neerja Gupta

    Diterbitkan 2023-01-01
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  2. 2
    Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report

    Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report oleh Neerja Gupta, Anita Kaul, Madhulika Kabra

    Diterbitkan 2013-01-01
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  3. 3
    Pelvic radiograph in skeletal dysplasias: An approach

    Pelvic radiograph in skeletal dysplasias: An approach oleh Manisha Jana, Nikhil Nair, Arun K Gupta, Madhulika Kabra, Neerja Gupta

    Diterbitkan 2017-04-01
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  4. 4
    The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India

    The spectrum of leukodystrophies in children: Experience at a tertiary care centre from North India oleh Sheffali Gulati, Puneet Jain, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra

    Diterbitkan 2016-01-01
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  5. 5
    Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate

    Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate oleh Brajesh Lahri, Zakir Hussain, Neerja Gupta, Shikha Gupta, Abhishek Singh, Viney Gupta

    Diterbitkan 2023-09-01
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  6. 6
    Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

    Hand Radiographs in Skeletal Dysplasia: A Pictorial Review oleh Dheeksha D. S., Stuti Chandola, Aayush Jain, Neerja Gupta, Madhulika Kabra, Manisha Jana

    Diterbitkan 2024-04-01
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  7. 7
    Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population

    Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population oleh Anushree Mishra, Saranya Devi, Rohit Saxena, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

    Diterbitkan 2017-01-01
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  8. 8
    Spine radiograph in dysplasias: A pictorial essay

    Spine radiograph in dysplasias: A pictorial essay oleh Pavan Gabra, Manisha Jana, Priyanka Naranje, Neerja Gupta, Madhulika Kabra, Arun K Gupta, Richa Yadav

    Diterbitkan 2020-10-01
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  9. 9
    Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience

    Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience oleh Amit Gupta, Neerja Gupta, Madhulika Kabra, Tejinder Kaur, Pavan Gabra, Maroof A. Khan, Manisha Jana

    Diterbitkan 2023-04-01
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  10. 10
    A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

    A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report oleh Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

    Diterbitkan 2018-04-01
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  11. 11
    Decoding of novel missense TSC2 gene variants using in-silico methods

    Decoding of novel missense TSC2 gene variants using in-silico methods oleh Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra, Madhumita Roy Chowdhury

    Diterbitkan 2019-10-01
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  12. 12
    Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

    Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients oleh Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth

    Diterbitkan 2018-12-01
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  13. 13
    Clinical profile and treatment status of subjects with cleft lip and palate anomaly in India: Preliminary report of a three-center study

    Clinical profile and treatment status of subjects with cleft lip and palate anomaly in India: Preliminary report of a three-center study oleh O P Kharbanda, Karoon Agrawal, Rakesh Khazanchi, Suresh C Sharma, Sushma Sagar, Manish Singhal, Neeraj N Mathur, Kumud Kumar Handa, Madhulika Kabra, Neerja Gupta, Neeraj Wadhwan

    Diterbitkan 2014-01-01
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  14. 14
    NEXT-GENERATION SEQUENCING AND CHROMOSOMAL MICROARRAY ANALYSIS FOR GENETIC EVALUATION OF DYSTONIA

    NEXT-GENERATION SEQUENCING AND CHROMOSOMAL MICROARRAY ANALYSIS FOR GENETIC EVALUATION OF DYSTONIA oleh Arti Saini, Rahul Mewara, Bhawna Verma, Inder Singh, Vinod Scaria, Binukumar Bk, Neerja Gupta, Divya Radhakrishnan, A Elavarasi, Anu Gupta, Vishnu Vy, Mamta Singh, Rohit Bhatia, Achal Srivastava, Mv Srivastava, Roopa Rajan

    Diterbitkan 2023-10-01
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  15. 15
    Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

    Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting oleh Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal

    Diterbitkan 2022-08-01
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  16. 16
    Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

    Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients oleh Sheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, Hisham Ahamed, Ratna Dua Puri, Neerja Gupta, Madhulika Kabra, Prajnya Ranganath, Meenakshi Bhat, Shubha Phadke, Akella Radha Rama Devi, Sujatha Jagadeesh, Sumita Danda, Padmavathy Narayana Sylaja, Kausik Mandal, Sunita Bijarnia‐Mahay, Ravinder Makkar, Ishwar Chander Verma, Ashwin Dalal, Uma Ramaswami

    Diterbitkan 2020-11-01
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  17. 17
    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India

    Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in In... oleh Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth

    Diterbitkan 2024-05-01
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  18. 18
    Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

    Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre oleh Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja Gupta, Sunita Bijarnia-Mahay, Sandeep Kadam, Dhaval Solanki, Soham Desai, Anand Iyer, Ketan Patel, Harsh Patel, Raju C. Shah, Shalmi Mehta, Ruchi Shah, Riddhi Bhavsar, Jhanvi Shah, Mili Pandya, Bhagyadhan Patel, Sudhir Shah, Heli Shah, Shalin Shah, Shruti Bajaj, Siddharth Shah, Nilam Thaker, Umesh Kalane, Mahesh Kamate, Vykunta Raju KN, Naresh Tayade, Sujatha Jagadeesan, Deepika Jain, Mitesh Chandarana, Jitendra Singh, Sanjiv Mehta, Beena Suresh, Harsh Sheth

    Diterbitkan 2024-08-01
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