Resultados de búsqueda - 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 por Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    Publicado 2018
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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 por 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

    Publicado 2021
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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 por 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

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

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia por 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

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

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia por 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

    Publicado 2019
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