Результаты поиска - Neethukrishna Kausthubham

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  1. 1
    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function по Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    Опубликовано 2018
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    Artigo
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  2. 2
    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians по Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha

    Опубликовано 2021
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    Artigo
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  3. 3
    De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

    De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India по Pande, Shruti, Majethia, Purvi, Nair, Karthik, Rao, Lakshmi Priya, Mascarenhas, Selinda, Kaur, Namanpreet, do Rosario, Michelle C., Neethukrishna, Kausthubham, Chaurasia, Ankur, Hunakunti, Bhagesh, Jadhav, Nalesh, Xavier, Sruthy, Kumar, Jeevan, Bhat, Vivekananda, Bhavani, Gandham SriLakshmi, Narayanan, Dhanya Lakshmi, Yatheesha, B. L., Patil, Siddaramappa J., Nampoothiri, Sheela, Kamath, Nutan, Aroor, Shrikiran, Bhat Y, Ramesh, Lewis, Leslie E., Sharma, Suvasini, Bajaj, Shruti, Sankhyan, Naveen, Siddiqui, Shahyan, Nayak, Shalini S., Bielas, Stephanie, Girisha, Katta Mohan, Shukla, Anju

    Опубликовано 2023
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  4. 4
    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia по Chang, Hae Ryung, Cho, Sung Yoon, Lee, Jae Hoon, Lee, Eunkyung, Seo, Jieun, Lee, Hye Ran, Cavalcanti, Denise P., Mäkitie, Outi, Valta, Helena, Girisha, Katta M., Lee, Chung, Neethukrishna, Kausthubham, Bhavani, Gandham S., Shukla, Anju, Nampoothiri, Sheela, Phadke, Shubha R., Park, Mi Jung, Ikegawa, Shiro, Wang, Zheng, Higgs, Martin R., Stewart, Grant S., Jung, Eunyoung, Lee, Myeong-Sok, Park, Jong Hoon, Lee, Eun A., Kim, Hongtae, Myung, Kyungjae, Jeon, Woosung, Lee, Kyoungyeul, Kim, Dongsup, Kim, Ok-Hwa, Choi, Murim, Lee, Han-Woong, Kim, Yonghwan, Cho, Tae-Joon

    Опубликовано 2019
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  5. 5
    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia по Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eun‐Kyung Lee, Jieun Seo, Hyeran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Neethukrishna Kausthubham, Gandham SriLakshmi Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs, Grant S. Stewart, Eun Young Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han‐Woong Lee, Yonghwan Kim, Tae‐Joon Cho

    Опубликовано 2019
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    Artigo
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